Canonical Allele Identifier: CA2082836373

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379476T= , CM000675.2:g.32379476T=	GRCh38
NC_000013.10:g.32953613T= , CM000675.1:g.32953613T=	GRCh37
NC_000013.9:g.31851613T=	NCBI36
NG_012772.3:g.68997T= , LRG_293:g.68997T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8914T=	ENSP00000434898.2:p.Leu2972=
ENST00000528762.2:c.*281T=	ENSP00000433168.2:n.*281T=
ENST00000530893.7:c.8545T=	ENSP00000499438.2:p.Leu2849=
ENST00000665585.2:c.*476T=	ENSP00000499570.2:n.*476T=
ENST00000666593.2:c.8914T=	ENSP00000499256.2:p.Leu2972=
ENST00000700202.2:c.8914T=	ENSP00000514856.2:p.Leu2972=
ENST00000700202.1:c.1381T=	ENSP00000514856.1:p.Leu461=
ENST00000700203.1:n.1041T=
ENST00000380152.8:c.8914T= MANE Select	ENSP00000369497.3:p.Leu2972=
ENST00000544455.6:c.8914T=	ENSP00000439902.1:p.Leu2972=
ENST00000614259.2:c.8922T=	ENSP00000506251.1:n.8922T=
ENST00000665585.1:c.1792T=
ENST00000680887.1:c.8914T=	ENSP00000505508.1:p.Leu2972=
ENST00000380152.7:c.8914T=	ENSP00000369497.3:p.Leu2972=
ENST00000528762.1:c.476T=	ENSP00000433168.1:n.476T=
ENST00000544455.5:c.8914T=	ENSP00000439902.1:p.Leu2972=
NM_000059.3:c.8914T= , LRG_293t1:c.8914T=	NP_000050.2:p.Leu2972=
XM_011535203.1:c.8914T=	XP_011533505.1:p.Leu2972=
XM_011535204.1:c.8818T=	XP_011533506.1:p.Leu2940=
XM_011535205.1:c.8755-274T=	XP_011533507.1:n.8755-274T=
NM_000059.4:c.8914T= MANE Select	NP_000050.3:p.Leu2972=