Description

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

Synonyms

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

Location
About this transcript

This transcript has 24 exons, is annotated with 27 domains and features, is associated with 634 variations and maps to 41 oligo probes.

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

Transcript Support Level 1, when transcripts 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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

OCA2-002ENST000003538093068814aaENSP00000261276
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS73701Q04671 NM_001300984
NP_001287913
TSL:1

Transcript Support Level 1, when transcripts 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

Transcript Support Level 3, when transcripts are supported by a single EST only.

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

Transcript Support Level 3, when transcripts are supported by a single EST only.

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.

Protein domains for ENSP00000346659.3

Transcript-based displays