Canonical Allele Identifier: CA387758735

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380145G>A , CM000675.2:g.32380145G>A	GRCh38
NC_000013.10:g.32954282G>A , CM000675.1:g.32954282G>A	GRCh37
NC_000013.9:g.31852282G>A	NCBI36
NG_012772.3:g.69666G>A , LRG_293:g.69666G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9256G>A MANE Select	NP_000050.3:p.Gly3086Arg
ENST00000380152.8:c.9256G>A MANE Select	ENSP00000369497.3:p.Gly3086Arg
NM_000059.3:c.9256G>A , LRG_293t1:c.9256G>A	NP_000050.2:p.Gly3086Arg
ENST00000380152.7:c.9256G>A	ENSP00000369497.3:p.Gly3086Arg
ENST00000470094.1:c.213G>A
ENST00000470094.2:c.9256G>A	ENSP00000434898.2:p.Gly3086Arg
ENST00000528762.2:c.*623G>A	ENSP00000433168.2:n.*623G>A
ENST00000530893.7:c.8887G>A	ENSP00000499438.2:p.Gly2963Arg
ENST00000544455.5:c.9256G>A	ENSP00000439902.1:p.Gly3086Arg
ENST00000544455.6:c.9256G>A	ENSP00000439902.1:p.Gly3086Arg
ENST00000614259.2:c.9264G>A	ENSP00000506251.1:n.9264G>A
ENST00000665585.1:c.2134G>A
ENST00000665585.2:c.*818G>A	ENSP00000499570.2:n.*818G>A
ENST00000666593.1:c.139G>A	ENSP00000499256.1:p.Val47Met
ENST00000666593.2:c.9256G>A	ENSP00000499256.2:p.Val3086Met
ENST00000680887.1:c.9256G>A	ENSP00000505508.1:p.Gly3086Arg
ENST00000700202.1:c.1672G>A	ENSP00000514856.1:p.Gly558Arg
ENST00000700202.2:c.9205G>A	ENSP00000514856.2:p.Gly3069Arg
ENST00000700203.1:n.1383G>A
XM_011535203.1:c.9256G>A	XP_011533505.1:p.Gly3086Arg
XM_011535204.1:c.9160G>A	XP_011533506.1:p.Gly3054Arg