Canonical Allele Identifier: CA501003
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32333020del , CM000675.2:g.32333020del GRCh38
NC_000013.10:g.32907157del , CM000675.1:g.32907157del GRCh37
NC_000013.9:g.31805157del NCBI36
NG_012772.3:g.22541del , LRG_293:g.22541del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1542del ENSP00000434898.2:p.Thr515LeufsTer10
ENST00000528762.2:c.1542del ENSP00000433168.2:p.Thr515LeufsTer10
ENST00000530893.7:c.1173del ENSP00000499438.2:p.Thr392LeufsTer10
ENST00000665585.2:c.1542del ENSP00000499570.2:p.Thr515LeufsTer10
ENST00000666593.2:c.1542del ENSP00000499256.2:p.Thr515LeufsTer10
ENST00000700202.2:c.1542del ENSP00000514856.2:p.Thr515LeufsTer10
ENST00000700201.1:c.*1321del ENSP00000514855.1:n.*1321del
ENST00000380152.8:c.1542del MANE Select ENSP00000369497.3:p.Thr515LeufsTer10
ENST00000544455.6:c.1542del ENSP00000439902.1:p.Thr515LeufsTer10
ENST00000614259.2:c.1542del ENSP00000506251.1:p.Thr515LeufsTer10
ENST00000680887.1:c.1542del ENSP00000505508.1:p.Thr515LeufsTer10
ENST00000380152.7:c.1542del ENSP00000369497.3:p.Thr515LeufsTer10
ENST00000530893.6:n.1740del
ENST00000544455.5:c.1542del ENSP00000439902.1:p.Thr515LeufsTer10
ENST00000614259.1:n.1542del
NM_000059.3:c.1542del , LRG_293t1:c.1542del NP_000050.2:p.Thr515LeufsTer10
XM_011535203.1:c.1542del XP_011533505.1:p.Thr515LeufsTer10
XM_011535204.1:c.1542del XP_011533506.1:p.Thr515LeufsTer10
XM_011535205.1:c.1542del XP_011533507.1:p.Thr515LeufsTer10
NM_000059.4:c.1542del MANE Select NP_000050.3:p.Thr515LeufsTer10