Canonical Allele Identifier: CA247493156

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483123
• ClinVar RCV Id: RCV000567588 ; RCV001223923 ; RCV003607319
• dbSNP Id: rs200157227
• gnomAD v4: 13-32379381-A-G
• MyVariant Identifiers: chr13:g.32953518A>G (hg19) ; chr13:g.32379381A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379381A>G , CM000675.2:g.32379381A>G	GRCh38
NC_000013.10:g.32953518A>G , CM000675.1:g.32953518A>G	GRCh37
NC_000013.9:g.31851518A>G	NCBI36
NG_012772.3:g.68902A>G , LRG_293:g.68902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8819A>G	ENSP00000434898.2:p.Lys2940Arg
ENST00000528762.2:c.*186A>G	ENSP00000433168.2:n.*186A>G
ENST00000530893.7:c.8450A>G	ENSP00000499438.2:p.Lys2817Arg
ENST00000665585.2:c.*381A>G	ENSP00000499570.2:n.*381A>G
ENST00000666593.2:c.8819A>G	ENSP00000499256.2:p.Lys2940Arg
ENST00000700202.2:c.8819A>G	ENSP00000514856.2:p.Lys2940Arg
ENST00000700202.1:c.1286A>G	ENSP00000514856.1:p.Lys429Arg
ENST00000700203.1:n.946A>G
ENST00000380152.8:c.8819A>G MANE Select	ENSP00000369497.3:p.Lys2940Arg
ENST00000544455.6:c.8819A>G	ENSP00000439902.1:p.Lys2940Arg
ENST00000614259.2:c.8827A>G	ENSP00000506251.1:n.8827A>G
ENST00000665585.1:c.1697A>G
ENST00000680887.1:c.8819A>G	ENSP00000505508.1:p.Lys2940Arg
ENST00000380152.7:c.8819A>G	ENSP00000369497.3:p.Lys2940Arg
ENST00000528762.1:c.381A>G	ENSP00000433168.1:n.381A>G
ENST00000544455.5:c.8819A>G	ENSP00000439902.1:p.Lys2940Arg
NM_000059.3:c.8819A>G , LRG_293t1:c.8819A>G	NP_000050.2:p.Lys2940Arg
XM_011535203.1:c.8819A>G	XP_011533505.1:p.Lys2940Arg
XM_011535204.1:c.8723A>G	XP_011533506.1:p.Lys2908Arg
XM_011535205.1:c.8755-369A>G	XP_011533507.1:n.8755-369A>G
NM_000059.4:c.8819A>G MANE Select	NP_000050.3:p.Lys2940Arg