Canonical Allele Identifier: CA387757781

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2774963
• ClinVar RCV Id: RCV003585022 ; RCV004011591
• dbSNP Id: rs398122610
• MyVariant Identifiers: chr13:g.32954153G>A (hg19) ; chr13:g.32380016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380016G>A , CM000675.2:g.32380016G>A	GRCh38
NC_000013.10:g.32954153G>A , CM000675.1:g.32954153G>A	GRCh37
NC_000013.9:g.31852153G>A	NCBI36
NG_012772.3:g.69537G>A , LRG_293:g.69537G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9127G>A	ENSP00000434898.2:p.Glu3043Lys
ENST00000528762.2:c.*494G>A	ENSP00000433168.2:n.*494G>A
ENST00000530893.7:c.8758G>A	ENSP00000499438.2:p.Glu2920Lys
ENST00000665585.2:c.*689G>A	ENSP00000499570.2:n.*689G>A
ENST00000666593.2:c.9127G>A	ENSP00000499256.2:p.Glu3043Lys
ENST00000700202.2:c.9076G>A	ENSP00000514856.2:p.Glu3026Lys
ENST00000700202.1:c.1543G>A	ENSP00000514856.1:p.Glu515Lys
ENST00000700203.1:n.1254G>A
ENST00000380152.8:c.9127G>A MANE Select	ENSP00000369497.3:p.Glu3043Lys
ENST00000544455.6:c.9127G>A	ENSP00000439902.1:p.Glu3043Lys
ENST00000614259.2:c.9135G>A	ENSP00000506251.1:n.9135G>A
ENST00000665585.1:c.2005G>A
ENST00000666593.1:c.10G>A	ENSP00000499256.1:p.Glu4Lys
ENST00000680887.1:c.9127G>A	ENSP00000505508.1:p.Glu3043Lys
ENST00000380152.7:c.9127G>A	ENSP00000369497.3:p.Glu3043Lys
ENST00000470094.1:c.84G>A
ENST00000544455.5:c.9127G>A	ENSP00000439902.1:p.Glu3043Lys
NM_000059.3:c.9127G>A , LRG_293t1:c.9127G>A	NP_000050.2:p.Glu3043Lys
XM_011535203.1:c.9127G>A	XP_011533505.1:p.Glu3043Lys
XM_011535204.1:c.9031G>A	XP_011533506.1:p.Glu3011Lys
NM_000059.4:c.9127G>A MANE Select	NP_000050.3:p.Glu3043Lys