Canonical Allele Identifier: CA025781

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 41568
• ClinVar RCV Id: RCV000034466 ; RCV000077448 ; RCV000129089 ; RCV000418186 ; RCV001086184 ; RCV001353522
• dbSNP Id: rs80359128
• ExAC: 13:32950861 G / A
• gnomAD v2: 13-32950861-G-A
• gnomAD v3: 13-32376724-G-A
• gnomAD v4: 13-32376724-G-A
• MyVariant Identifiers: chr13:g.32950861G>A (hg19) ; chr13:g.32376724G>A (hg38)
• PubMed: PMID:10923033 ; PMID:19043619 ; PMID:22476429 ; PMID:22703879 ; PMID:24817641 ; PMID:25348012

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376724G>A , CM000675.2:g.32376724G>A	GRCh38
NC_000013.10:g.32950861G>A , CM000675.1:g.32950861G>A	GRCh37
NC_000013.9:g.31848861G>A	NCBI36
NG_012772.3:g.66245G>A , LRG_293:g.66245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8687G>A	ENSP00000434898.2:p.Arg2896His
ENST00000528762.2:c.*54G>A	ENSP00000433168.2:n.*54G>A
ENST00000530893.7:c.8318G>A	ENSP00000499438.2:p.Arg2773His
ENST00000665585.2:c.*249G>A	ENSP00000499570.2:n.*249G>A
ENST00000666593.2:c.8687G>A	ENSP00000499256.2:p.Arg2896His
ENST00000700202.2:c.8687G>A	ENSP00000514856.2:p.Arg2896His
ENST00000700202.1:c.1154G>A	ENSP00000514856.1:p.Arg385His
ENST00000700203.1:n.814G>A
ENST00000380152.8:c.8687G>A MANE Select	ENSP00000369497.3:p.Arg2896His
ENST00000544455.6:c.8687G>A	ENSP00000439902.1:p.Arg2896His
ENST00000614259.2:c.8695G>A	ENSP00000506251.1:n.8695G>A
ENST00000665585.1:c.1565G>A
ENST00000680887.1:c.8687G>A	ENSP00000505508.1:p.Arg2896His
ENST00000380152.7:c.8687G>A	ENSP00000369497.3:p.Arg2896His
ENST00000528762.1:c.249G>A	ENSP00000433168.1:n.249G>A
ENST00000544455.5:c.8687G>A	ENSP00000439902.1:p.Arg2896His
NM_000059.3:c.8687G>A , LRG_293t1:c.8687G>A	NP_000050.2:p.Arg2896His
XM_011535203.1:c.8687G>A	XP_011533505.1:p.Arg2896His
XM_011535204.1:c.8591G>A	XP_011533506.1:p.Arg2864His
XM_011535205.1:c.8687G>A	XP_011533507.1:p.Arg2896His
NM_000059.4:c.8687G>A MANE Select	NP_000050.3:p.Arg2896His