Gene: BRCA2 ENSG00000139618

Description

breast cancer 2, early onset [Source:HGNC Symbol;Acc:1101]

Gene Synonyms

BRCC2, BROVCA2, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, GLM3, PNCA2

Location

Chromosome 13: 32,889,611-32,973,805 forward strand.

GRCh37:CM000675.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 122 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000544455.1	BRCA2-201	10984	3418aa	ENSP00000439902.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9344	E9PIQ1 K4JTT2 K4JXT6 K4K7W0 P51587 Q8IU64 Q8IU77 Q8IU82 Q9H4L3	NM_000059.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000380152.3	BRCA2-001	10930	3418aa	ENSP00000369497.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9344	E9PIQ1 K4JTT2 K4JXT6 K4K7W0 P51587 Q8IU64 Q8IU77 Q8IU82 Q9H4L3	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000530893.2	BRCA2-003	2011	481aa	ENSP00000435699.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIQ1 Q8IU82	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000470094.1	BRCA2-002	842	186aa	ENSP00000434898.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000528762.1	BRCA2-005	495	64aa	ENSP00000433168.1	Nonsense mediated decay		H0YD86	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000533776.1	BRCA2-006	523	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: BRCA2 ENSG00000139618

Summary