Canonical Allele Identifier: CA483440141

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2089455
• ClinVar RCV Id: RCV003020465 ; RCV003585326
• dbSNP Id: rs2137664123
• MyVariant Identifiers: chr13:g.32972472G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398335G>A , CM000675.2:g.32398335G>A	GRCh38
NC_000013.10:g.32972472G>A , CM000675.1:g.32972472G>A	GRCh37
NC_000013.9:g.31870472G>A	NCBI36
NG_012772.3:g.87856G>A , LRG_293:g.87856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*345G>A	ENSP00000434898.2:n.*345G>A
ENST00000528762.2:c.*1189G>A	ENSP00000433168.2:n.*1189G>A
ENST00000530893.7:c.9453G>A	ENSP00000499438.2:p.Leu3151=
ENST00000665585.2:c.*1384G>A	ENSP00000499570.2:n.*1384G>A
ENST00000700202.2:c.9771G>A	ENSP00000514856.2:p.Leu3257=
ENST00000700202.1:c.2238G>A	ENSP00000514856.1:p.Leu746=
ENST00000700203.1:n.1949G>A
ENST00000380152.8:c.9822G>A MANE Select	ENSP00000369497.3:p.Leu3274=
ENST00000544455.6:c.9822G>A	ENSP00000439902.1:p.Leu3274=
ENST00000614259.2:c.9830G>A	ENSP00000506251.1:n.9830G>A
ENST00000680887.1:c.9822G>A	ENSP00000505508.1:p.Leu3274=
ENST00000380152.7:c.9822G>A	ENSP00000369497.3:p.Leu3274=
ENST00000533776.1:n.410G>A
ENST00000544455.5:c.9822G>A	ENSP00000439902.1:p.Leu3274=
NM_000059.3:c.9822G>A , LRG_293t1:c.9822G>A	NP_000050.2:p.Leu3274=
XM_011535203.1:c.9822G>A	XP_011533505.1:p.Leu3274=
XM_011535204.1:c.9726G>A	XP_011533506.1:p.Leu3242=
NM_000059.4:c.9822G>A MANE Select	NP_000050.3:p.Leu3274=