Canonical Allele Identifier: CA2082823490

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394814C= , CM000675.2:g.32394814C=	GRCh38
NC_000013.10:g.32968951C= , CM000675.1:g.32968951C=	GRCh37
NC_000013.9:g.31866951C=	NCBI36
NG_012772.3:g.84335C= , LRG_293:g.84335C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9382C= MANE Select	NP_000050.3:p.Arg3128=
ENST00000380152.8:c.9382C= MANE Select	ENSP00000369497.3:p.Arg3128=
NM_000059.3:c.9382C= , LRG_293t1:c.9382C=	NP_000050.2:p.Arg3128=
ENST00000380152.7:c.9382C=	ENSP00000369497.3:p.Arg3128=
ENST00000470094.1:c.339C=
ENST00000470094.2:c.9382C=	ENSP00000434898.2:p.Arg3128=
ENST00000528762.2:c.*749C=	ENSP00000433168.2:n.*749C=
ENST00000530893.7:c.9013C=	ENSP00000499438.2:p.Arg3005=
ENST00000544455.5:c.9382C=	ENSP00000439902.1:p.Arg3128=
ENST00000544455.6:c.9382C=	ENSP00000439902.1:p.Arg3128=
ENST00000614259.2:c.9390C=	ENSP00000506251.1:n.9390C=
ENST00000665585.1:c.2260C=
ENST00000665585.2:c.*944C=	ENSP00000499570.2:n.*944C=
ENST00000666593.1:c.404C=	ENSP00000499256.1:n.404C=
ENST00000666593.2:c.*227C=	ENSP00000499256.2:n.*227C=
ENST00000680887.1:c.9382C=	ENSP00000505508.1:p.Arg3128=
ENST00000700202.1:c.1798C=	ENSP00000514856.1:p.Arg600=
ENST00000700202.2:c.9331C=	ENSP00000514856.2:p.Arg3111=
ENST00000700203.1:n.1509C=
XM_011535203.1:c.9382C=	XP_011533505.1:p.Arg3128=
XM_011535204.1:c.9286C=	XP_011533506.1:p.Arg3096=