Canonical Allele Identifier: CA2082836117

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379441A= , CM000675.2:g.32379441A=	GRCh38
NC_000013.10:g.32953578A= , CM000675.1:g.32953578A=	GRCh37
NC_000013.9:g.31851578A=	NCBI36
NG_012772.3:g.68962A= , LRG_293:g.68962A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8879A=	ENSP00000434898.2:p.Gln2960=
ENST00000528762.2:c.*246A=	ENSP00000433168.2:n.*246A=
ENST00000530893.7:c.8510A=	ENSP00000499438.2:p.Gln2837=
ENST00000665585.2:c.*441A=	ENSP00000499570.2:n.*441A=
ENST00000666593.2:c.8879A=	ENSP00000499256.2:p.Gln2960=
ENST00000700202.2:c.8879A=	ENSP00000514856.2:p.Gln2960=
ENST00000700202.1:c.1346A=	ENSP00000514856.1:p.Gln449=
ENST00000700203.1:n.1006A=
ENST00000380152.8:c.8879A= MANE Select	ENSP00000369497.3:p.Gln2960=
ENST00000544455.6:c.8879A=	ENSP00000439902.1:p.Gln2960=
ENST00000614259.2:c.8887A=	ENSP00000506251.1:n.8887A=
ENST00000665585.1:c.1757A=
ENST00000680887.1:c.8879A=	ENSP00000505508.1:p.Gln2960=
ENST00000380152.7:c.8879A=	ENSP00000369497.3:p.Gln2960=
ENST00000528762.1:c.441A=	ENSP00000433168.1:n.441A=
ENST00000544455.5:c.8879A=	ENSP00000439902.1:p.Gln2960=
NM_000059.3:c.8879A= , LRG_293t1:c.8879A=	NP_000050.2:p.Gln2960=
XM_011535203.1:c.8879A=	XP_011533505.1:p.Gln2960=
XM_011535204.1:c.8783A=	XP_011533506.1:p.Gln2928=
XM_011535205.1:c.8755-309A=	XP_011533507.1:n.8755-309A=
NM_000059.4:c.8879A= MANE Select	NP_000050.3:p.Gln2960=