Human (GRCh38.p14)
Description

survival of motor neuron 2, centromeric [Source:HGNC Symbol;Acc:HGNC:11118]

Gene Synonyms

BCD541, GEMIN1, SMNC, TDRD16B

Location

Scaffold HSCHR5_2_CTG1_1: 456,849-485,731 reverse strand.

GRCh38:GL339449.2

View this gene on the primary assembly.

About this gene

This gene has 12 transcripts (splice variants), 1 gene allele and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000618251.4SMN2-2311492294aaENSP00000483515.1
 
Protein coding
Q16637-1 -Ensembl CanonicalGENCODE basicTSL:1
ENST00000624634.3SMN2-2371388262aaENSP00000485595.1
 
Protein coding
Q16637-2 -GENCODE basicTSL:5
ENST00000618661.2SMN2-232900294aaENSP00000483819.1
 
Protein coding
Q16637-1 -GENCODE basicTSL:1
ENST00000629741.2SMN2-238885294aaENSP00000485830.1
 
Protein coding
E7EQZ4 -GENCODE basicTSL:5
ENST00000619658.4SMN2-233867227aaENSP00000478583.1
 
Protein coding
B4DP61 -GENCODE basicTSL:2
ENST00000611442.4SMN2-227804262aaENSP00000483768.1
 
Protein coding
Q16637-2 -GENCODE basicTSL:5
ENST00000612446.4SMN2-2291550294aaENSP00000478274.1
 
Nonsense mediated decay
E7EQZ4 -TSL:5
ENST00000620650.4SMN2-234104546aaENSP00000480541.1
 
Nonsense mediated decay
U3KPX7 -TSL:3CDS 5' incomplete
ENST00000617648.4SMN2-23041779aaENSP00000482226.1
 
Nonsense mediated decay
H0YBZ9 -TSL:2CDS 5' incomplete
ENST00000611906.4SMN2-228671No protein-
 
Retained intron
--TSL:5
ENST00000624254.3SMN2-236458No protein-
 
Retained intron
--TSL:2
ENST00000624213.1SMN2-235211No protein-
 
Retained intron
--TSL:5