Canonical Allele Identifier: CA2082837466

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379752A= , CM000675.2:g.32379752A=	GRCh38
NC_000013.10:g.32953889A= , CM000675.1:g.32953889A=	GRCh37
NC_000013.9:g.31851889A=	NCBI36
NG_012772.3:g.69273A= , LRG_293:g.69273A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8956A=	ENSP00000434898.2:p.Ile2986=
ENST00000528762.2:c.*323A=	ENSP00000433168.2:n.*323A=
ENST00000530893.7:c.8587A=	ENSP00000499438.2:p.Ile2863=
ENST00000665585.2:c.*518A=	ENSP00000499570.2:n.*518A=
ENST00000666593.2:c.8956A=	ENSP00000499256.2:p.Ile2986=
ENST00000700202.2:c.8954-49A=	ENSP00000514856.2:n.8954-49A=
ENST00000700202.1:c.1421-49A=	ENSP00000514856.1:n.1421-49A=
ENST00000700203.1:n.1083A=
ENST00000380152.8:c.8956A= MANE Select	ENSP00000369497.3:p.Ile2986=
ENST00000544455.6:c.8956A=	ENSP00000439902.1:p.Ile2986=
ENST00000614259.2:c.8964A=	ENSP00000506251.1:n.8964A=
ENST00000665585.1:c.1834A=
ENST00000680887.1:c.8956A=	ENSP00000505508.1:p.Ile2986=
ENST00000380152.7:c.8956A=	ENSP00000369497.3:p.Ile2986=
ENST00000544455.5:c.8956A=	ENSP00000439902.1:p.Ile2986=
NM_000059.3:c.8956A= , LRG_293t1:c.8956A=	NP_000050.2:p.Ile2986=
XM_011535203.1:c.8956A=	XP_011533505.1:p.Ile2986=
XM_011535204.1:c.8860A=	XP_011533506.1:p.Ile2954=
XM_011535205.1:c.8757A=	XP_011533507.1:p.Leu2919=
NM_000059.4:c.8956A= MANE Select	NP_000050.3:p.Ile2986=