Description

gap junction protein, beta 2, 26kDa [Source:HGNC Symbol;Acc:HGNC:4284]

Synonyms

CX26, DFNA3, DFNB1, NSRD1

Location
About this transcript

This transcript has 2 exons, is annotated with 17 domains and features, is associated with 461 variations and maps to 25 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
GJB2-002ENST000003828442309226aaENSP00000372295
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9290H9U1J4 P29033 -TSL:NA

Transcript Support Level Not Analysed. Pseudogenes, single exon transcripts, HLA, T-cell receptor and Ig transcripts are not analysed and therefore not given any of the TSL categories.

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.

GJB2-001ENST000003828482250226aaENSP00000372299
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9290H9U1J4 P29033 NM_004004
NP_003995
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.

Protein domains for ENSP00000372299.4

Transcript-based displays