Canonical Allele Identifier: CA018705
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316497_32316504del , CM000675.2:g.32316497_32316504del GRCh38
NC_000013.10:g.32890634_32890641del , CM000675.1:g.32890634_32890641del GRCh37
NC_000013.9:g.31788634_31788641del NCBI36
NG_012772.3:g.6018_6025del , LRG_293:g.6018_6025del
NG_017006.1:g.455_462del
NG_017006.2:g.3864_3871del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.37_44del MANE Select NP_000050.3:p.Glu13Ter
ENST00000380152.8:c.37_44del MANE Select ENSP00000369497.3:p.Glu13Ter
NM_000059.3:c.37_44del , LRG_293t1:c.37_44del NP_000050.2:p.Glu13Ter
ENST00000380152.7:c.37_44del ENSP00000369497.3:p.Glu13Ter
ENST00000470094.2:c.37_44del ENSP00000434898.2:p.Glu13Ter
ENST00000528762.2:c.37_44del ENSP00000433168.2:p.Glu13Ter
ENST00000530893.6:n.239_246del
ENST00000530893.7:c.-329_-322del ENSP00000499438.2:n.-329_-322del
ENST00000544455.5:c.37_44del ENSP00000439902.1:p.Glu13Ter
ENST00000544455.6:c.37_44del ENSP00000439902.1:p.Glu13Ter
ENST00000614259.1:n.37_44del
ENST00000614259.2:c.37_44del ENSP00000506251.1:p.Glu13Ter
ENST00000665585.2:c.37_44del ENSP00000499570.2:p.Glu13Ter
ENST00000666593.2:c.37_44del ENSP00000499256.2:p.Glu13Ter
ENST00000680887.1:c.37_44del ENSP00000505508.1:p.Glu13Ter
ENST00000700199.1:n.161_168del
ENST00000700200.1:n.161_168del
ENST00000700201.1:c.37_44del ENSP00000514855.1:p.Glu13Ter
ENST00000700202.2:c.37_44del ENSP00000514856.2:p.Glu13Ter
XM_011535203.1:c.37_44del XP_011533505.1:p.Glu13Ter
XM_011535204.1:c.37_44del XP_011533506.1:p.Glu13Ter
XM_011535205.1:c.37_44del XP_011533507.1:p.Glu13Ter