Human (GRCh37.p13)
Description

oculocutaneous albinism II [Source:HGNC Symbol;Acc:8101]

Gene Synonyms

BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1

Location
About this transcript

This transcript has 23 exons, is annotated with 21 domains and features, is associated with 144291 variant alleles and maps to 693 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000354638.3OCA2-0013186838aaENSP00000346659.3
 
Protein coding
CCDS10020C9JDV3 Q04671 NM_000275.2GENCODE basic
ENST00000353809.5OCA2-0023068814aaENSP00000261276.8
 
Protein coding
C9JDV3 Q04671 -GENCODE basic
ENST00000382996.2OCA2-2012117668aaENSP00000372457.2
 
Protein coding
C9JDV3 Q04671 -GENCODE basic
ENST00000431101.1OCA2-003996264aaENSP00000415431.1
 
Protein coding
C9JDV3 -CDS 3' incomplete
ENST00000445578.1OCA2-004750218aaENSP00000414425.1
 
Protein coding
C9JLG9 -CDS 3' incomplete
Statistics

Exons: 23, Coding exons: 22, Transcript length: 3,068 bps, Translation length: 814 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q04671

Version

ENST00000353809.5

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000250824 (version 1)
GENCODE basic gene

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