Description

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

Synonyms

BEY, BEY1, BEY2, D15S12, EYCL, EYCL2, EYCL3, P

Location
INSDC coordinates

chromosome:GRCh38:CM000677.2:27754875:28099358:1

About this gene

This gene has 4 transcripts (splice variants), 68 orthologues, is a member of 1 Ensembl protein family and is associated with 7 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OCA2-001ENST000003546383186838aaENSP00000346659
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS10020Q04671 NM_000275
NP_000266
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
OCA2-002ENST000003538093068814aaENSP00000261276
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS73701Q04671 NM_001300984
NP_001287913
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
OCA2-003ENST00000431101996264aaENSP00000415431
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JDV3 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

OCA2-004ENST00000445578750218aaENSP00000414425
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JLG9 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays