Human (GRCh38.p14)
Description

PMS1 homolog 2, mismatch repair system component [Source:HGNC Symbol;Acc:HGNC:9122]

Gene Synonyms

HNPCC4, H_DJ0042M02.9, MLH4, PMS-2, PMSL2

Location
About this transcript

This transcript has 15 exons, is annotated with 41 domains and features, is associated with 25700 variant alleles and maps to 1690 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000265849.12PMS2-2015093862aaENSP00000265849.7
 
Protein coding
CCDS5343P54278-1 NM_000535.7MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P3TSL:1
ENST00000699818.1PMS2-2355253727aaENSP00000514619.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000699811.1PMS2-2295246727aaENSP00000514614.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000699766.1PMS2-2245167873aaENSP00000514574.1
 
Protein coding
CCDS94052A0A8V8TQ50 -GENCODE basic
ENST00000699821.1PMS2-2385145738aaENSP00000514622.1
 
Protein coding
CCDS94050A0A8V8TQ92 -GENCODE basic
ENST00000699761.1PMS2-2195053727aaENSP00000514569.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000699930.2PMS2-2635035826aaENSP00000514695.2
 
Protein coding
A0A8V8TQS5 -GENCODE basic
ENST00000699768.1PMS2-2264990814aaENSP00000514576.1
 
Protein coding
A0A8V8TQI1 -GENCODE basic
ENST00000699762.1PMS2-2204940671aaENSP00000514570.1
 
Protein coding
CCDS94048A0A8V8TP84 -GENCODE basic
ENST00000699752.1PMS2-2104907810aaENSP00000514561.1
 
Protein coding
CCDS94051A0A8V8TQG9 -GENCODE basic
ENST00000699754.1PMS2-2124880796aaENSP00000514563.1
 
Protein coding
A0A8V8TNY8 -GENCODE basic
ENST00000699760.1PMS2-2184867756aaENSP00000514568.1
 
Protein coding
CCDS83155C9J167 -GENCODE basic
ENST00000699839.1PMS2-2543597924aaENSP00000514637.1
 
Protein coding
A0A8V8TNX6 -GENCODE basicAPPRIS ALT2
ENST00000699840.2PMS2-2552812861aaENSP00000514638.2
 
Protein coding
A0A8V8TP72 -GENCODE basicAPPRIS ALT2
ENST00000642456.1PMS2-2072765727aaENSP00000493814.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000699837.1PMS2-2522684727aaENSP00000514635.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000642292.1PMS2-2062679727aaENSP00000495524.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000699827.1PMS2-2442659806aaENSP00000514628.1
 
Protein coding
A0A8V8TPE1 -GENCODE basic
ENST00000699825.1PMS2-2422642675aaENSP00000514626.1
 
Protein coding
CCDS94049A0A8V8TP61 -GENCODE basic
ENST00000699823.1PMS2-2402599727aaENSP00000514624.1
 
Protein coding
CCDS87474A0A2R8Y6S3 -GENCODE basic
ENST00000382321.5PMS2-2021386461aaENSP00000371758.4
 
Protein coding
P54278-2 -GENCODE basicTSL:1
ENST00000699952.1PMS2-2681185267aaENSP00000514707.1
 
Protein coding
A0A8V8TQT4 -GENCODE basic
ENST00000699816.1PMS2-2335400247aaENSP00000514617.1
 
Nonsense mediated decay
A0A8V8TQ88 --
ENST00000699763.1PMS2-2215230208aaENSP00000514571.1
 
Nonsense mediated decay
A0A8V8TQH7 --
ENST00000699815.1PMS2-232520172aaENSP00000514616.1
 
Nonsense mediated decay
A0A8V8TNX1 --
ENST00000699819.1PMS2-236510491aaENSP00000514620.1
 
Nonsense mediated decay
A0A8V8TNW1 --
ENST00000699767.1PMS2-2255091771aaENSP00000514575.1
 
Nonsense mediated decay
A0A8V8TP89 --
ENST00000699753.1PMS2-211504047aaENSP00000514562.1
 
Nonsense mediated decay
A0A8V8TNQ7 --
ENST00000699756.1PMS2-2145034119aaENSP00000514565.1
 
Nonsense mediated decay
A0A8V8TP79 --
ENST00000699755.1PMS2-213503348aaENSP00000514564.1
 
Nonsense mediated decay
A0A8V8TQ41 --
ENST00000699764.1PMS2-2224996530aaENSP00000514572.1
 
Nonsense mediated decay
A0A8V8TNR7 --
ENST00000699817.1PMS2-234487371aaENSP00000514618.1
 
Nonsense mediated decay
A0A8V8TPD1 --
ENST00000699758.1PMS2-2164811151aaENSP00000514567.1
 
Nonsense mediated decay
A0A8V8TNR3 --
ENST00000699765.1PMS2-2234787161aaENSP00000514573.1
 
Nonsense mediated decay
A0A8V8TNZ8 --
ENST00000699814.2PMS2-2314762100aaENSP00000514615.2
 
Nonsense mediated decay
A0A8V8TNV6 --
ENST00000699757.1PMS2-215475763aaENSP00000514566.1
 
Nonsense mediated decay
A0A8V8TQH3 --
ENST00000699820.1PMS2-2374280399aaENSP00000514621.1
 
Nonsense mediated decay
A0A8V8TP55 --
ENST00000699920.1PMS2-2603686207aaENSP00000514688.1
 
Nonsense mediated decay
A0A8V8TPJ6 --
ENST00000699919.1PMS2-2593637207aaENSP00000514687.1
 
Nonsense mediated decay
A0A8V8TPJ6 --
ENST00000699918.1PMS2-2583551207aaENSP00000514686.1
 
Nonsense mediated decay
A0A8V8TPJ6 --
ENST00000699838.1PMS2-253354288aaENSP00000514636.1
 
Nonsense mediated decay
A0A8V8TQN0 --
ENST00000699917.1PMS2-2573499207aaENSP00000514685.1
 
Nonsense mediated decay
A0A8V8TPJ6 --
ENST00000699916.1PMS2-256334196aaENSP00000514684.1
 
Nonsense mediated decay
A0A8V8TQR6 --
ENST00000699828.1PMS2-2452974343aaENSP00000514629.1
 
Nonsense mediated decay
A0A8V8TQM5 --
ENST00000699824.1PMS2-2412919207aaENSP00000514625.1
 
Nonsense mediated decay
A0A8V8TPJ6 --
ENST00000699822.1PMS2-239283072aaENSP00000514623.1
 
Nonsense mediated decay
A0A8V8TNX1 --
ENST00000699928.1PMS2-2612728347aaENSP00000514693.1
 
Nonsense mediated decay
A0A8V8TPK2 --
ENST00000699951.1PMS2-2672684267aaENSP00000514706.1
 
Nonsense mediated decay
A0A8V8TQT4 --
ENST00000699826.1PMS2-243262348aaENSP00000514627.1
 
Nonsense mediated decay
A0A8V8TQ41 --
ENST00000643595.1PMS2-2082600183aaENSP00000494497.1
 
Nonsense mediated decay
P54278-4 --
ENST00000644110.2PMS2-2092509100aaENSP00000496392.2
 
Nonsense mediated decay
A0A2R8Y814 --
ENST00000406569.8PMS2-2032101572aaENSP00000514464.1
 
Nonsense mediated decay
P54278-3 -TSL:1
ENST00000699953.1PMS2-2691806264aaENSP00000514708.1
 
Nonsense mediated decay
A0A8V8TPE7 --
ENST00000699929.1PMS2-2621757183aaENSP00000514694.1
 
Nonsense mediated decay
P54278-4 --
ENST00000699954.1PMS2-2701754182aaENSP00000514709.1
 
Nonsense mediated decay
A0A8V8TP66 --
ENST00000699932.1PMS2-2651341267aaENSP00000514696.1
 
Nonsense mediated decay
A0A8V8TQT4 --
ENST00000699829.1PMS2-246132972aaENSP00000514630.1
 
Nonsense mediated decay
A0A8V8TNX1 --
ENST00000699830.1PMS2-2471293182aaENSP00000514631.1
 
Nonsense mediated decay
A0A8V8TP66 --
ENST00000699759.1PMS2-2175887No protein-
 
Protein coding CDS not defined
---
ENST00000699931.1PMS2-2643252No protein-
 
Protein coding CDS not defined
---
ENST00000699834.1PMS2-2511255No protein-
 
Protein coding CDS not defined
---
ENST00000469652.1PMS2-20593No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000699833.1PMS2-2506805No protein-
 
Retained intron
---
ENST00000699813.1PMS2-2305146No protein-
 
Retained intron
---
ENST00000699831.1PMS2-2481426No protein-
 
Retained intron
---
ENST00000699832.1PMS2-2491401No protein-
 
Retained intron
---
ENST00000703409.1PMS2-2711228No protein-
 
Retained intron
---
ENST00000699933.1PMS2-2661220No protein-
 
Retained intron
---
ENST00000699769.1PMS2-2271182No protein-
 
Retained intron
---
ENST00000415839.3PMS2-204749No protein-
 
Retained intron
--TSL:5
ENST00000699770.1PMS2-228561No protein-
 
Retained intron
---
Statistics

Exons: 15, Coding exons: 15, Transcript length: 5,093 bps, Translation length: 862 residues

MANE

This MANE Select transcript contains ENSP00000265849 and matches to NM_000535.7 and NP_000526.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: P54278

CCDS

This transcript is a member of the Human CCDS set: CCDS5343

Transcript Support Level (TSL)

TSL:1

Version

ENST00000265849.12

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.