Canonical Allele Identifier: CA2082835808

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379389C= , CM000675.2:g.32379389C=	GRCh38
NC_000013.10:g.32953526C= , CM000675.1:g.32953526C=	GRCh37
NC_000013.9:g.31851526C=	NCBI36
NG_012772.3:g.68910C= , LRG_293:g.68910C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8827C=	ENSP00000434898.2:p.Gln2943=
ENST00000528762.2:c.*194C=	ENSP00000433168.2:n.*194C=
ENST00000530893.7:c.8458C=	ENSP00000499438.2:p.Gln2820=
ENST00000665585.2:c.*389C=	ENSP00000499570.2:n.*389C=
ENST00000666593.2:c.8827C=	ENSP00000499256.2:p.Gln2943=
ENST00000700202.2:c.8827C=	ENSP00000514856.2:p.Gln2943=
ENST00000700202.1:c.1294C=	ENSP00000514856.1:p.Gln432=
ENST00000700203.1:n.954C=
ENST00000380152.8:c.8827C= MANE Select	ENSP00000369497.3:p.Gln2943=
ENST00000544455.6:c.8827C=	ENSP00000439902.1:p.Gln2943=
ENST00000614259.2:c.8835C=	ENSP00000506251.1:n.8835C=
ENST00000665585.1:c.1705C=
ENST00000680887.1:c.8827C=	ENSP00000505508.1:p.Gln2943=
ENST00000380152.7:c.8827C=	ENSP00000369497.3:p.Gln2943=
ENST00000528762.1:c.389C=	ENSP00000433168.1:n.389C=
ENST00000544455.5:c.8827C=	ENSP00000439902.1:p.Gln2943=
NM_000059.3:c.8827C= , LRG_293t1:c.8827C=	NP_000050.2:p.Gln2943=
XM_011535203.1:c.8827C=	XP_011533505.1:p.Gln2943=
XM_011535204.1:c.8731C=	XP_011533506.1:p.Gln2911=
XM_011535205.1:c.8755-361C=	XP_011533507.1:n.8755-361C=
NM_000059.4:c.8827C= MANE Select	NP_000050.3:p.Gln2943=