Canonical Allele Identifier: CA2082839980

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380018A= , CM000675.2:g.32380018A=	GRCh38
NC_000013.10:g.32954155A= , CM000675.1:g.32954155A=	GRCh37
NC_000013.9:g.31852155A=	NCBI36
NG_012772.3:g.69539A= , LRG_293:g.69539A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9129A=	ENSP00000434898.2:p.Glu3043=
ENST00000528762.2:c.*496A=	ENSP00000433168.2:n.*496A=
ENST00000530893.7:c.8760A=	ENSP00000499438.2:p.Glu2920=
ENST00000665585.2:c.*691A=	ENSP00000499570.2:n.*691A=
ENST00000666593.2:c.9129A=	ENSP00000499256.2:p.Glu3043=
ENST00000700202.2:c.9078A=	ENSP00000514856.2:p.Glu3026=
ENST00000700202.1:c.1545A=	ENSP00000514856.1:p.Glu515=
ENST00000700203.1:n.1256A=
ENST00000380152.8:c.9129A= MANE Select	ENSP00000369497.3:p.Glu3043=
ENST00000544455.6:c.9129A=	ENSP00000439902.1:p.Glu3043=
ENST00000614259.2:c.9137A=	ENSP00000506251.1:n.9137A=
ENST00000665585.1:c.2007A=
ENST00000666593.1:c.12A=	ENSP00000499256.1:p.Glu4=
ENST00000680887.1:c.9129A=	ENSP00000505508.1:p.Glu3043=
ENST00000380152.7:c.9129A=	ENSP00000369497.3:p.Glu3043=
ENST00000470094.1:c.86A=
ENST00000544455.5:c.9129A=	ENSP00000439902.1:p.Glu3043=
NM_000059.3:c.9129A= , LRG_293t1:c.9129A=	NP_000050.2:p.Glu3043=
XM_011535203.1:c.9129A=	XP_011533505.1:p.Glu3043=
XM_011535204.1:c.9033A=	XP_011533506.1:p.Glu3011=
NM_000059.4:c.9129A= MANE Select	NP_000050.3:p.Glu3043=