Canonical Allele Identifier: CA2622599904
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32331013_32331016del , CM000675.2:g.32331013_32331016del GRCh38
NC_000013.10:g.32905150_32905153del , CM000675.1:g.32905150_32905153del GRCh37
NC_000013.9:g.31803150_31803153del NCBI36
NG_012772.3:g.20534_20537del , LRG_293:g.20534_20537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.776_779del ENSP00000434898.2:p.Arg259LysfsTer17
ENST00000528762.2:c.776_779del ENSP00000433168.2:p.Arg259LysfsTer17
ENST00000530893.7:c.407_410del ENSP00000499438.2:p.Arg136LysfsTer17
ENST00000665585.2:c.776_779del ENSP00000499570.2:p.Arg259LysfsTer17
ENST00000666593.2:c.776_779del ENSP00000499256.2:p.Arg259LysfsTer17
ENST00000700202.2:c.776_779del ENSP00000514856.2:p.Arg259LysfsTer17
ENST00000700201.1:c.*555_*558del ENSP00000514855.1:n.*555_*558del
ENST00000380152.8:c.776_779del MANE Select ENSP00000369497.3:p.Arg259LysfsTer17
ENST00000544455.6:c.776_779del ENSP00000439902.1:p.Arg259LysfsTer17
ENST00000614259.2:c.776_779del ENSP00000506251.1:p.Arg259LysfsTer17
ENST00000680887.1:c.776_779del ENSP00000505508.1:p.Arg259LysfsTer17
ENST00000380152.7:c.776_779del ENSP00000369497.3:p.Arg259LysfsTer17
ENST00000530893.6:n.974_977del
ENST00000544455.5:c.776_779del ENSP00000439902.1:p.Arg259LysfsTer17
ENST00000614259.1:n.776_779del
NM_000059.3:c.776_779del , LRG_293t1:c.776_779del NP_000050.2:p.Arg259LysfsTer17
XM_011535203.1:c.776_779del XP_011533505.1:p.Arg259LysfsTer17
XM_011535204.1:c.776_779del XP_011533506.1:p.Arg259LysfsTer17
XM_011535205.1:c.776_779del XP_011533507.1:p.Arg259LysfsTer17
NM_000059.4:c.776_779del MANE Select NP_000050.3:p.Arg259LysfsTer17