Transcript: ENST00000354638.3 OCA2-001

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 24 exons, is annotated with 23 domains and features, is associated with 144325 variant alleles and maps to 639 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000354638.3	OCA2-001	3186	838aa	ENSP00000346659.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10020	C9JDV3 Q04671	NM_000275.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000353809.5	OCA2-002	3068	814aa	ENSP00000261276.8	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3 Q04671	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000382996.2	OCA2-201	2117	668aa	ENSP00000372457.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3 Q04671	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000431101.1	OCA2-003	996	264aa	ENSP00000415431.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JDV3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000445578.1	OCA2-004	750	218aa	ENSP00000414425.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JLG9	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Summary

Statistics

Exons: 24, Coding exons: 23, Transcript length: 3,186 bps, Translation length: 838 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q04671

CCDS

This transcript is a member of the Human CCDS set: CCDS10020

Version

ENST00000354638.3

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:	OTTHUMT00000250823 (version 1)

GENCODE basic gene

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