Transcript: ENST00000445578.1 OCA2-004

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 6 exons, is annotated with 2 domains and features, is associated with 34520 variant alleles and maps to 123 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: 6, Coding exons: 5, Transcript length: 750 bps, Translation length: 218 residues

Incomplete CDS

3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete

Version

ENST00000445578.1

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:	OTTHUMT00000250826 (version 2)