Canonical Allele Identifier: CA2082839972

Gene: BRCA2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9127G=	ENSP00000434898.2:p.Glu3043=
ENST00000528762.2:c.*494G=	ENSP00000433168.2:n.*494G=
ENST00000530893.7:c.8758G=	ENSP00000499438.2:p.Glu2920=
ENST00000665585.2:c.*689G=	ENSP00000499570.2:n.*689G=
ENST00000666593.2:c.9127G=	ENSP00000499256.2:p.Glu3043=
ENST00000700202.2:c.9076G=	ENSP00000514856.2:p.Glu3026=
ENST00000700202.1:c.1543G=	ENSP00000514856.1:p.Glu515=
ENST00000700203.1:n.1254G=
ENST00000380152.8:c.9127G= MANE Select	ENSP00000369497.3:p.Glu3043=
ENST00000544455.6:c.9127G=	ENSP00000439902.1:p.Glu3043=
ENST00000614259.2:c.9135G=	ENSP00000506251.1:n.9135G=
ENST00000665585.1:c.2005G=
ENST00000666593.1:c.10G=	ENSP00000499256.1:p.Glu4=
ENST00000680887.1:c.9127G=	ENSP00000505508.1:p.Glu3043=
ENST00000380152.7:c.9127G=	ENSP00000369497.3:p.Glu3043=
ENST00000470094.1:c.84G=
ENST00000544455.5:c.9127G=	ENSP00000439902.1:p.Glu3043=
NM_000059.3:c.9127G= , LRG_293t1:c.9127G=	NP_000050.2:p.Glu3043=
XM_011535203.1:c.9127G=	XP_011533505.1:p.Glu3043=
XM_011535204.1:c.9031G=	XP_011533506.1:p.Glu3011=
NM_000059.4:c.9127G= MANE Select	NP_000050.3:p.Glu3043=