Canonical Allele Identifier: CA026040

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52780
• ClinVar RCV Id: RCV000114069 ; RCV000221088 ; RCV000216816 ; RCV001290187
• dbSNP Id: rs80359187
• ExAC: 13:32954253 G / A
• gnomAD v2: 13-32954253-G-A
• gnomAD v4: 13-32380116-G-A
• MyVariant Identifiers: chr13:g.32954253G>A (hg19) ; chr13:g.32380116G>A (hg38)
• PubMed: PMID:11149425 ; PMID:12228710 ; PMID:12569143 ; PMID:19043619 ; PMID:19064968 ; PMID:22632462 ; PMID:22711857 ; PMID:23108138 ; PMID:26295337 ; PMID:26402249

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380116G>A , CM000675.2:g.32380116G>A	GRCh38
NC_000013.10:g.32954253G>A , CM000675.1:g.32954253G>A	GRCh37
NC_000013.9:g.31852253G>A	NCBI36
NG_012772.3:g.69637G>A , LRG_293:g.69637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9227G>A	ENSP00000434898.2:p.Gly3076Glu
ENST00000528762.2:c.*594G>A	ENSP00000433168.2:n.*594G>A
ENST00000530893.7:c.8858G>A	ENSP00000499438.2:p.Gly2953Glu
ENST00000665585.2:c.*789G>A	ENSP00000499570.2:n.*789G>A
ENST00000666593.2:c.9227G>A	ENSP00000499256.2:p.Gly3076Glu
ENST00000700202.2:c.9176G>A	ENSP00000514856.2:p.Gly3059Glu
ENST00000700202.1:c.1643G>A	ENSP00000514856.1:p.Gly548Glu
ENST00000700203.1:n.1354G>A
ENST00000380152.8:c.9227G>A MANE Select	ENSP00000369497.3:p.Gly3076Glu
ENST00000544455.6:c.9227G>A	ENSP00000439902.1:p.Gly3076Glu
ENST00000614259.2:c.9235G>A	ENSP00000506251.1:n.9235G>A
ENST00000665585.1:c.2105G>A
ENST00000666593.1:c.110G>A	ENSP00000499256.1:p.Gly37Glu
ENST00000680887.1:c.9227G>A	ENSP00000505508.1:p.Gly3076Glu
ENST00000380152.7:c.9227G>A	ENSP00000369497.3:p.Gly3076Glu
ENST00000470094.1:c.184G>A
ENST00000544455.5:c.9227G>A	ENSP00000439902.1:p.Gly3076Glu
NM_000059.3:c.9227G>A , LRG_293t1:c.9227G>A	NP_000050.2:p.Gly3076Glu
XM_011535203.1:c.9227G>A	XP_011533505.1:p.Gly3076Glu
XM_011535204.1:c.9131G>A	XP_011533506.1:p.Gly3044Glu
NM_000059.4:c.9227G>A MANE Select	NP_000050.3:p.Gly3076Glu