Canonical Allele Identifier: CA2082823365

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394808C= , CM000675.2:g.32394808C=	GRCh38
NC_000013.10:g.32968945C= , CM000675.1:g.32968945C=	GRCh37
NC_000013.9:g.31866945C=	NCBI36
NG_012772.3:g.84329C= , LRG_293:g.84329C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9376C= MANE Select	NP_000050.3:p.Gln3126=
ENST00000380152.8:c.9376C= MANE Select	ENSP00000369497.3:p.Gln3126=
NM_000059.3:c.9376C= , LRG_293t1:c.9376C=	NP_000050.2:p.Gln3126=
ENST00000380152.7:c.9376C=	ENSP00000369497.3:p.Gln3126=
ENST00000470094.1:c.333C=
ENST00000470094.2:c.9376C=	ENSP00000434898.2:p.Gln3126=
ENST00000528762.2:c.*743C=	ENSP00000433168.2:n.*743C=
ENST00000530893.7:c.9007C=	ENSP00000499438.2:p.Gln3003=
ENST00000544455.5:c.9376C=	ENSP00000439902.1:p.Gln3126=
ENST00000544455.6:c.9376C=	ENSP00000439902.1:p.Gln3126=
ENST00000614259.2:c.9384C=	ENSP00000506251.1:n.9384C=
ENST00000665585.1:c.2254C=
ENST00000665585.2:c.*938C=	ENSP00000499570.2:n.*938C=
ENST00000666593.1:c.398C=	ENSP00000499256.1:n.398C=
ENST00000666593.2:c.*221C=	ENSP00000499256.2:n.*221C=
ENST00000680887.1:c.9376C=	ENSP00000505508.1:p.Gln3126=
ENST00000700202.1:c.1792C=	ENSP00000514856.1:p.Gln598=
ENST00000700202.2:c.9325C=	ENSP00000514856.2:p.Gln3109=
ENST00000700203.1:n.1503C=
XM_011535203.1:c.9376C=	XP_011533505.1:p.Gln3126=
XM_011535204.1:c.9280C=	XP_011533506.1:p.Gln3094=