Canonical Allele Identifier: CA2831039792
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398459del , CM000675.2:g.32398459del GRCh38
NC_000013.10:g.32972596del , CM000675.1:g.32972596del GRCh37
NC_000013.9:g.31870596del NCBI36
NG_012772.3:g.87980del , LRG_293:g.87980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*469del ENSP00000434898.2:n.*469del
ENST00000528762.2:c.*1313del ENSP00000433168.2:n.*1313del
ENST00000530893.7:c.9577del ENSP00000499438.2:p.Glu3193AsnfsTer2
ENST00000665585.2:c.*1508del ENSP00000499570.2:n.*1508del
ENST00000700202.2:c.9895del ENSP00000514856.2:p.Glu3299AsnfsTer2
ENST00000700202.1:c.2362del ENSP00000514856.1:p.Glu788AsnfsTer2
ENST00000700203.1:n.2073del
ENST00000380152.8:c.9946del MANE Select ENSP00000369497.3:p.Glu3316AsnfsTer2
ENST00000544455.6:c.9946del ENSP00000439902.1:p.Glu3316AsnfsTer2
ENST00000614259.2:c.9954del ENSP00000506251.1:n.9954del
ENST00000680887.1:c.9946del ENSP00000505508.1:p.Glu3316AsnfsTer2
ENST00000380152.7:c.9946del ENSP00000369497.3:p.Glu3316AsnfsTer2
ENST00000544455.5:c.9946del ENSP00000439902.1:p.Glu3316AsnfsTer2
NM_000059.3:c.9946del , LRG_293t1:c.9946del NP_000050.2:p.Glu3316AsnfsTer2
XM_011535203.1:c.9946del XP_011533505.1:p.Glu3316AsnfsTer2
XM_011535204.1:c.9850del XP_011533506.1:p.Glu3284AsnfsTer2
NM_000059.4:c.9946del MANE Select NP_000050.3:p.Glu3316AsnfsTer2