Canonical Allele Identifier: CA2082837976
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379798C= , CM000675.2:g.32379798C= GRCh38
NC_000013.10:g.32953935C= , CM000675.1:g.32953935C= GRCh37
NC_000013.9:g.31851935C= NCBI36
NG_012772.3:g.69319C= , LRG_293:g.69319C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9002C= ENSP00000434898.2:p.Thr3001=
ENST00000528762.2:c.*369C= ENSP00000433168.2:n.*369C=
ENST00000530893.7:c.8633C= ENSP00000499438.2:p.Thr2878=
ENST00000665585.2:c.*564C= ENSP00000499570.2:n.*564C=
ENST00000666593.2:c.9002C= ENSP00000499256.2:p.Thr3001=
ENST00000700202.2:c.8954-3C= ENSP00000514856.2:n.8954-3C=
ENST00000700202.1:c.1421-3C= ENSP00000514856.1:n.1421-3C=
ENST00000700203.1:n.1129C=
ENST00000380152.8:c.9002C= MANE Select ENSP00000369497.3:p.Thr3001=
ENST00000544455.6:c.9002C= ENSP00000439902.1:p.Thr3001=
ENST00000614259.2:c.9010C= ENSP00000506251.1:n.9010C=
ENST00000665585.1:c.1880C=
ENST00000680887.1:c.9002C= ENSP00000505508.1:p.Thr3001=
ENST00000380152.7:c.9002C= ENSP00000369497.3:p.Thr3001=
ENST00000544455.5:c.9002C= ENSP00000439902.1:p.Thr3001=
NM_000059.3:c.9002C= , LRG_293t1:c.9002C= NP_000050.2:p.Thr3001=
XM_011535203.1:c.9002C= XP_011533505.1:p.Thr3001=
XM_011535204.1:c.8906C= XP_011533506.1:p.Thr2969=
XM_011535205.1:c.*40C= XP_011533507.1:n.*40C=
NM_000059.4:c.9002C= MANE Select NP_000050.3:p.Thr3001=