Canonical Allele Identifier: CA2580612213
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362530_32362533del , CM000675.2:g.32362530_32362533del GRCh38
NC_000013.10:g.32936667_32936670del , CM000675.1:g.32936667_32936670del GRCh37
NC_000013.9:g.31834667_31834670del NCBI36
NG_012772.3:g.52051_52054del , LRG_293:g.52051_52054del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7813_7816del ENSP00000434898.2:p.Cys2605ThrfsTer?
ENST00000528762.2:c.7813_7816del ENSP00000433168.2:p.Cys2605ThrfsTer?
ENST00000530893.7:c.7444_7447del ENSP00000499438.2:p.Cys2482ThrfsTer?
ENST00000665585.2:c.7813_7816del ENSP00000499570.2:p.Cys2605ThrfsTer?
ENST00000666593.2:c.7813_7816del ENSP00000499256.2:p.Cys2605ThrfsTer?
ENST00000700202.2:c.7813_7816del ENSP00000514856.2:p.Cys2605ThrfsTer?
ENST00000700202.1:c.280_283del ENSP00000514856.1:p.Cys94ThrfsTer?
ENST00000380152.8:c.7813_7816del MANE Select ENSP00000369497.3:p.Cys2605ThrfsTer?
ENST00000544455.6:c.7813_7816del ENSP00000439902.1:p.Cys2605ThrfsTer?
ENST00000614259.2:c.7821_7824del ENSP00000506251.1:p.Cys2607Ter
ENST00000665585.1:c.378_381del
ENST00000680887.1:c.7813_7816del ENSP00000505508.1:p.Cys2605ThrfsTer?
ENST00000380152.7:c.7813_7816del ENSP00000369497.3:p.Cys2605ThrfsTer?
ENST00000544455.5:c.7813_7816del ENSP00000439902.1:p.Cys2605ThrfsTer?
ENST00000614259.1:n.7821_7824del
NM_000059.3:c.7813_7816del , LRG_293t1:c.7813_7816del NP_000050.2:p.Cys2605ThrfsTer?
XM_011535203.1:c.7813_7816del XP_011533505.1:p.Cys2605ThrfsTer?
XM_011535204.1:c.7717_7720del XP_011533506.1:p.Cys2573ThrfsTer?
XM_011535205.1:c.7813_7816del XP_011533507.1:p.Cys2605ThrfsTer?
NM_000059.4:c.7813_7816del MANE Select NP_000050.3:p.Cys2605ThrfsTer?