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 7 exons, is annotated with 2 domains and features, is associated with 33404 variant alleles and maps to 157 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: 7, Coding exons: 6, Transcript length: 996 bps, Translation length: 264 residues

Incomplete CDS

CDS 3' incomplete

Version

ENST00000431101.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000250825 (version 1)