Canonical Allele Identifier: CA2082840698

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380085C= , CM000675.2:g.32380085C=	GRCh38
NC_000013.10:g.32954222C= , CM000675.1:g.32954222C=	GRCh37
NC_000013.9:g.31852222C=	NCBI36
NG_012772.3:g.69606C= , LRG_293:g.69606C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9196C= MANE Select	NP_000050.3:p.Gln3066=
ENST00000380152.8:c.9196C= MANE Select	ENSP00000369497.3:p.Gln3066=
NM_000059.3:c.9196C= , LRG_293t1:c.9196C=	NP_000050.2:p.Gln3066=
ENST00000380152.7:c.9196C=	ENSP00000369497.3:p.Gln3066=
ENST00000470094.1:c.153C=
ENST00000470094.2:c.9196C=	ENSP00000434898.2:p.Gln3066=
ENST00000528762.2:c.*563C=	ENSP00000433168.2:n.*563C=
ENST00000530893.7:c.8827C=	ENSP00000499438.2:p.Gln2943=
ENST00000544455.5:c.9196C=	ENSP00000439902.1:p.Gln3066=
ENST00000544455.6:c.9196C=	ENSP00000439902.1:p.Gln3066=
ENST00000614259.2:c.9204C=	ENSP00000506251.1:n.9204C=
ENST00000665585.1:c.2074C=
ENST00000665585.2:c.*758C=	ENSP00000499570.2:n.*758C=
ENST00000666593.1:c.79C=	ENSP00000499256.1:p.Gln27=
ENST00000666593.2:c.9196C=	ENSP00000499256.2:p.Gln3066=
ENST00000680887.1:c.9196C=	ENSP00000505508.1:p.Gln3066=
ENST00000700202.1:c.1612C=	ENSP00000514856.1:p.Gln538=
ENST00000700202.2:c.9145C=	ENSP00000514856.2:p.Gln3049=
ENST00000700203.1:n.1323C=
XM_011535203.1:c.9196C=	XP_011533505.1:p.Gln3066=
XM_011535204.1:c.9100C=	XP_011533506.1:p.Gln3034=