Canonical Allele Identifier: CA387757641

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379885C>G , CM000675.2:g.32379885C>G	GRCh38
NC_000013.10:g.32954022C>G , CM000675.1:g.32954022C>G	GRCh37
NC_000013.9:g.31852022C>G	NCBI36
NG_012772.3:g.69406C>G , LRG_293:g.69406C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9089C>G MANE Select	NP_000050.3:p.Thr3030Arg
ENST00000380152.8:c.9089C>G MANE Select	ENSP00000369497.3:p.Thr3030Arg
NM_000059.3:c.9089C>G , LRG_293t1:c.9089C>G	NP_000050.2:p.Thr3030Arg
ENST00000380152.7:c.9089C>G	ENSP00000369497.3:p.Thr3030Arg
ENST00000470094.1:c.46C>G
ENST00000470094.2:c.9089C>G	ENSP00000434898.2:p.Thr3030Arg
ENST00000528762.2:c.*456C>G	ENSP00000433168.2:n.*456C>G
ENST00000530893.7:c.8720C>G	ENSP00000499438.2:p.Thr2907Arg
ENST00000544455.5:c.9089C>G	ENSP00000439902.1:p.Thr3030Arg
ENST00000544455.6:c.9089C>G	ENSP00000439902.1:p.Thr3030Arg
ENST00000614259.2:c.9097C>G	ENSP00000506251.1:n.9097C>G
ENST00000665585.1:c.1967C>G
ENST00000665585.2:c.*651C>G	ENSP00000499570.2:n.*651C>G
ENST00000666593.2:c.9089C>G	ENSP00000499256.2:p.Thr3030Arg
ENST00000680887.1:c.9089C>G	ENSP00000505508.1:p.Thr3030Arg
ENST00000700202.1:c.1505C>G	ENSP00000514856.1:p.Thr502Arg
ENST00000700202.2:c.9038C>G	ENSP00000514856.2:p.Thr3013Arg
ENST00000700203.1:n.1216C>G
XM_011535203.1:c.9089C>G	XP_011533505.1:p.Thr3030Arg
XM_011535204.1:c.8993C>G	XP_011533506.1:p.Thr2998Arg