Canonical Allele Identifier: CA2082822609

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394750G= , CM000675.2:g.32394750G=	GRCh38
NC_000013.10:g.32968887G= , CM000675.1:g.32968887G=	GRCh37
NC_000013.9:g.31866887G=	NCBI36
NG_012772.3:g.84271G= , LRG_293:g.84271G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9318G= MANE Select	NP_000050.3:p.Trp3106=
ENST00000380152.8:c.9318G= MANE Select	ENSP00000369497.3:p.Trp3106=
NM_000059.3:c.9318G= , LRG_293t1:c.9318G=	NP_000050.2:p.Trp3106=
ENST00000380152.7:c.9318G=	ENSP00000369497.3:p.Trp3106=
ENST00000470094.1:c.275G=
ENST00000470094.2:c.9318G=	ENSP00000434898.2:p.Trp3106=
ENST00000528762.2:c.*685G=	ENSP00000433168.2:n.*685G=
ENST00000530893.7:c.8949G=	ENSP00000499438.2:p.Trp2983=
ENST00000544455.5:c.9318G=	ENSP00000439902.1:p.Trp3106=
ENST00000544455.6:c.9318G=	ENSP00000439902.1:p.Trp3106=
ENST00000614259.2:c.9326G=	ENSP00000506251.1:n.9326G=
ENST00000665585.1:c.2196G=
ENST00000665585.2:c.*880G=	ENSP00000499570.2:n.*880G=
ENST00000666593.1:c.340G=	ENSP00000499256.1:n.340G=
ENST00000666593.2:c.*163G=	ENSP00000499256.2:n.*163G=
ENST00000680887.1:c.9318G=	ENSP00000505508.1:p.Trp3106=
ENST00000700202.1:c.1734G=	ENSP00000514856.1:p.Trp578=
ENST00000700202.2:c.9267G=	ENSP00000514856.2:p.Trp3089=
ENST00000700203.1:n.1445G=
XM_011535203.1:c.9318G=	XP_011533505.1:p.Trp3106=
XM_011535204.1:c.9222G=	XP_011533506.1:p.Trp3074=