Canonical Allele Identifier: CA025935
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379823del , CM000675.2:g.32379823del GRCh38
NC_000013.10:g.32953960del , CM000675.1:g.32953960del GRCh37
NC_000013.9:g.31851960del NCBI36
NG_012772.3:g.69344del , LRG_293:g.69344del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9027del MANE Select NP_000050.3:p.His3010IlefsTer18
ENST00000380152.8:c.9027del MANE Select ENSP00000369497.3:p.His3010IlefsTer18
NM_000059.3:c.9027del , LRG_293t1:c.9027del NP_000050.2:p.His3010IlefsTer18
ENST00000380152.7:c.9027del ENSP00000369497.3:p.His3010IlefsTer18
ENST00000470094.2:c.9027del ENSP00000434898.2:p.His3010IlefsTer18
ENST00000528762.2:c.*394del ENSP00000433168.2:n.*394del
ENST00000530893.7:c.8658del ENSP00000499438.2:p.His2887IlefsTer18
ENST00000544455.5:c.9027del ENSP00000439902.1:p.His3010IlefsTer18
ENST00000544455.6:c.9027del ENSP00000439902.1:p.His3010IlefsTer18
ENST00000614259.2:c.9035del ENSP00000506251.1:n.9035del
ENST00000665585.1:c.1905del
ENST00000665585.2:c.*589del ENSP00000499570.2:n.*589del
ENST00000666593.2:c.9027del ENSP00000499256.2:p.His3010IlefsTer18
ENST00000680887.1:c.9027del ENSP00000505508.1:p.His3010IlefsTer18
ENST00000700202.1:c.1443del ENSP00000514856.1:p.His482IlefsTer18
ENST00000700202.2:c.8976del ENSP00000514856.2:p.His2993IlefsTer18
ENST00000700203.1:n.1154del
XM_011535203.1:c.9027del XP_011533505.1:p.His3010IlefsTer18
XM_011535204.1:c.8931del XP_011533506.1:p.His2978IlefsTer18
XM_011535205.1:c.*65del XP_011533507.1:n.*65del