Canonical Allele Identifier: CA010623

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 193553
• ClinVar RCV Id: RCV000173632 ; RCV001038733 ; RCV002390417
• dbSNP Id: rs794726967
• gnomAD v4: 13-32332517-C-A
• MyVariant Identifiers: chr13:g.32906654C>A (hg19) ; chr13:g.32332517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332517C>A , CM000675.2:g.32332517C>A	GRCh38
NC_000013.10:g.32906654C>A , CM000675.1:g.32906654C>A	GRCh37
NC_000013.9:g.31804654C>A	NCBI36
NG_012772.3:g.22038C>A , LRG_293:g.22038C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1039C>A	ENSP00000434898.2:p.Gln347Lys
ENST00000528762.2:c.1039C>A	ENSP00000433168.2:p.Gln347Lys
ENST00000530893.7:c.670C>A	ENSP00000499438.2:p.Gln224Lys
ENST00000665585.2:c.1039C>A	ENSP00000499570.2:p.Gln347Lys
ENST00000666593.2:c.1039C>A	ENSP00000499256.2:p.Gln347Lys
ENST00000700202.2:c.1039C>A	ENSP00000514856.2:p.Gln347Lys
ENST00000700201.1:c.*818C>A	ENSP00000514855.1:n.*818C>A
ENST00000380152.8:c.1039C>A MANE Select	ENSP00000369497.3:p.Gln347Lys
ENST00000544455.6:c.1039C>A	ENSP00000439902.1:p.Gln347Lys
ENST00000614259.2:c.1039C>A	ENSP00000506251.1:p.Gln347Lys
ENST00000680887.1:c.1039C>A	ENSP00000505508.1:p.Gln347Lys
ENST00000380152.7:c.1039C>A	ENSP00000369497.3:p.Gln347Lys
ENST00000530893.6:n.1237C>A
ENST00000544455.5:c.1039C>A	ENSP00000439902.1:p.Gln347Lys
ENST00000614259.1:n.1039C>A
NM_000059.3:c.1039C>A , LRG_293t1:c.1039C>A	NP_000050.2:p.Gln347Lys
XM_011535203.1:c.1039C>A	XP_011533505.1:p.Gln347Lys
XM_011535204.1:c.1039C>A	XP_011533506.1:p.Gln347Lys
XM_011535205.1:c.1039C>A	XP_011533507.1:p.Gln347Lys
NM_000059.4:c.1039C>A MANE Select	NP_000050.3:p.Gln347Lys