Canonical Allele Identifier: CA025601

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38156
• ClinVar RCV Id: RCV000031739 ; RCV000214554 ; RCV000212273 ; RCV001174961 ; RCV001442600
• dbSNP Id: rs80359078
• ExAC: 13:32944567 G / A
• gnomAD v2: 13-32944567-G-A
• gnomAD v3: 13-32370430-G-A
• gnomAD v4: 13-32370430-G-A
• COSMIC: COSM23924 ; COSM4990367
• MyVariant Identifiers: chr13:g.32944567G>A (hg19) ; chr13:g.32370430G>A (hg38)
• PubMed: PMID:23108138 ; PMID:24372583 ; PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370430G>A , CM000675.2:g.32370430G>A	GRCh38
NC_000013.10:g.32944567G>A , CM000675.1:g.32944567G>A	GRCh37
NC_000013.9:g.31842567G>A	NCBI36
NG_012772.3:g.59951G>A , LRG_293:g.59951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8360G>A	ENSP00000434898.2:p.Arg2787His
ENST00000528762.2:c.8360G>A	ENSP00000433168.2:p.Arg2787His
ENST00000530893.7:c.7991G>A	ENSP00000499438.2:p.Arg2664His
ENST00000665585.2:c.8360G>A	ENSP00000499570.2:p.Arg2787His
ENST00000666593.2:c.8360G>A	ENSP00000499256.2:p.Arg2787His
ENST00000700202.2:c.8360G>A	ENSP00000514856.2:p.Arg2787His
ENST00000700202.1:c.827G>A	ENSP00000514856.1:p.Arg276His
ENST00000380152.8:c.8360G>A MANE Select	ENSP00000369497.3:p.Arg2787His
ENST00000544455.6:c.8360G>A	ENSP00000439902.1:p.Arg2787His
ENST00000614259.2:c.8368G>A	ENSP00000506251.1:n.8368G>A
ENST00000665585.1:c.925G>A
ENST00000680887.1:c.8360G>A	ENSP00000505508.1:p.Arg2787His
ENST00000380152.7:c.8360G>A	ENSP00000369497.3:p.Arg2787His
ENST00000544455.5:c.8360G>A	ENSP00000439902.1:p.Arg2787His
NM_000059.3:c.8360G>A , LRG_293t1:c.8360G>A	NP_000050.2:p.Arg2787His
XM_011535203.1:c.8360G>A	XP_011533505.1:p.Arg2787His
XM_011535204.1:c.8264G>A	XP_011533506.1:p.Arg2755His
XM_011535205.1:c.8360G>A	XP_011533507.1:p.Arg2787His
NM_000059.4:c.8360G>A MANE Select	NP_000050.3:p.Arg2787His