HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Source:HGNC Symbol;Acc:HGNC:17022]
AIBP63, BLOC2S2, RU2
Scaffold HG2111_PATCH: 27,494-71,000 reverse strand.
This transcript has 22 exons, is annotated with 15 domains and features, is associated with 27204 variant alleles and maps to 720 oligo probes.
This transcript is a product of gene ENSG00000288445.2 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000671838.2 | HPS5-212 | 4840 | 1129aa | ENSP00000500370.1 | Protein coding | Q9UPZ3-1 | - | Ensembl Canonical, GENCODE basic, | |
ENST00000672413.1 | HPS5-216 | 4725 | 1015aa | ENSP00000499956.1 | Protein coding | Q9UPZ3-2 | - | GENCODE basic, | |
ENST00000672334.1 | HPS5-214 | 4147 | 1015aa | ENSP00000500042.1 | Protein coding | Q9UPZ3-2 | - | GENCODE basic, | |
ENST00000673322.1 | HPS5-220 | 2160 | 400aa | ENSP00000500818.1 | Protein coding | - | - | GENCODE basic, | |
ENST00000672381.1 | HPS5-215 | 1275 | 263aa | ENSP00000500840.1 | Protein coding | - | - | GENCODE basic, | |
ENST00000672223.1 | HPS5-213 | 759 | 160aa | ENSP00000500693.1 | Protein coding | - | - | CDS 3' incomplete, | |
ENST00000673434.1 | HPS5-221 | 1642 | No protein | - | Protein coding CDS not defined | - | - | - | |
ENST00000673145.1 | HPS5-219 | 485 | No protein | - | Protein coding CDS not defined | - | - | - | |
ENST00000673578.1 | HPS5-222 | 320 | No protein | - | Protein coding CDS not defined | - | - | - | |
ENST00000672622.1 | HPS5-217 | 1121 | No protein | - | Retained intron | - | - | - | |
ENST00000673098.1 | HPS5-218 | 711 | No protein | - | Retained intron | - | - | - |