Canonical Allele Identifier: CA2082836694

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398554A= , CM000675.2:g.32398554A=	GRCh38
NC_000013.10:g.32972691A= , CM000675.1:g.32972691A=	GRCh37
NC_000013.9:g.31870691A=	NCBI36
NG_012772.3:g.88075A= , LRG_293:g.88075A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*564A=	ENSP00000434898.2:n.*564A=
ENST00000528762.2:c.*1408A=	ENSP00000433168.2:n.*1408A=
ENST00000530893.7:c.9672A=	ENSP00000499438.2:p.Ile3224=
ENST00000665585.2:c.*1603A=	ENSP00000499570.2:n.*1603A=
ENST00000700202.2:c.9990A=	ENSP00000514856.2:p.Ile3330=
ENST00000700202.1:c.2457A=	ENSP00000514856.1:p.Ile819=
ENST00000700203.1:n.2168A=
ENST00000380152.8:c.10041A= MANE Select	ENSP00000369497.3:p.Ile3347=
ENST00000544455.6:c.10041A=	ENSP00000439902.1:p.Ile3347=
ENST00000614259.2:c.10049A=	ENSP00000506251.1:n.10049A=
ENST00000680887.1:c.10041A=	ENSP00000505508.1:p.Ile3347=
ENST00000380152.7:c.10041A=	ENSP00000369497.3:p.Ile3347=
ENST00000544455.5:c.10041A=	ENSP00000439902.1:p.Ile3347=
NM_000059.3:c.10041A= , LRG_293t1:c.10041A=	NP_000050.2:p.Ile3347=
XM_011535203.1:c.10041A=	XP_011533505.1:p.Ile3347=
XM_011535204.1:c.9945A=	XP_011533506.1:p.Ile3315=
NM_000059.4:c.10041A= MANE Select	NP_000050.3:p.Ile3347=