Canonical Allele Identifier: CA026179
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394930del , CM000675.2:g.32394930del GRCh38
NC_000013.10:g.32969067del , CM000675.1:g.32969067del GRCh37
NC_000013.9:g.31867067del NCBI36
NG_012772.3:g.84451del , LRG_293:g.84451del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9498del MANE Select NP_000050.3:p.Glu3167ArgfsTer?
ENST00000380152.8:c.9498del MANE Select ENSP00000369497.3:p.Glu3167ArgfsTer?
NM_000059.3:c.9498del , LRG_293t1:c.9498del NP_000050.2:p.Glu3167ArgfsTer?
ENST00000380152.7:c.9498del ENSP00000369497.3:p.Glu3167ArgfsTer?
ENST00000470094.1:c.455del
ENST00000470094.2:c.9498del ENSP00000434898.2:p.Glu3167ArgfsTer15
ENST00000528762.2:c.*865del ENSP00000433168.2:n.*865del
ENST00000530893.7:c.9129del ENSP00000499438.2:p.Glu3044ArgfsTer?
ENST00000544455.5:c.9498del ENSP00000439902.1:p.Glu3167ArgfsTer?
ENST00000544455.6:c.9498del ENSP00000439902.1:p.Glu3167ArgfsTer?
ENST00000614259.2:c.9506del ENSP00000506251.1:n.9506del
ENST00000665585.1:c.2376del
ENST00000665585.2:c.*1060del ENSP00000499570.2:n.*1060del
ENST00000666593.1:c.520del ENSP00000499256.1:n.520del
ENST00000666593.2:c.*343del ENSP00000499256.2:n.*343del
ENST00000680887.1:c.9498del ENSP00000505508.1:p.Glu3167ArgfsTer?
ENST00000700202.1:c.1914del ENSP00000514856.1:p.Glu639ArgfsTer?
ENST00000700202.2:c.9447del ENSP00000514856.2:p.Glu3150ArgfsTer?
ENST00000700203.1:n.1625del
XM_011535203.1:c.9498del XP_011533505.1:p.Glu3167ArgfsTer?
XM_011535204.1:c.9402del XP_011533506.1:p.Glu3135ArgfsTer?