Canonical Allele Identifier: CA012235
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51135
dbSNP Id: rs397507591

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332977del , CM000675.2:g.32332977del GRCh38
NC_000013.10:g.32907114del , CM000675.1:g.32907114del GRCh37
NC_000013.9:g.31805114del NCBI36
NG_012772.3:g.22498del , LRG_293:g.22498del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1499del ENSP00000434898.2:p.Gly500ValfsTer9
ENST00000528762.2:c.1499del ENSP00000433168.2:p.Gly500ValfsTer9
ENST00000530893.7:c.1130del ENSP00000499438.2:p.Gly377ValfsTer9
ENST00000665585.2:c.1499del ENSP00000499570.2:p.Gly500ValfsTer9
ENST00000666593.2:c.1499del ENSP00000499256.2:p.Gly500ValfsTer9
ENST00000700202.2:c.1499del ENSP00000514856.2:p.Gly500ValfsTer9
ENST00000700201.1:c.*1278del ENSP00000514855.1:n.*1278del
ENST00000380152.8:c.1499del MANE Select ENSP00000369497.3:p.Gly500ValfsTer9
ENST00000544455.6:c.1499del ENSP00000439902.1:p.Gly500ValfsTer9
ENST00000614259.2:c.1499del ENSP00000506251.1:p.Gly500ValfsTer9
ENST00000680887.1:c.1499del ENSP00000505508.1:p.Gly500ValfsTer9
ENST00000380152.7:c.1499del ENSP00000369497.3:p.Gly500ValfsTer9
ENST00000530893.6:n.1697del
ENST00000544455.5:c.1499del ENSP00000439902.1:p.Gly500ValfsTer9
ENST00000614259.1:n.1499del
NM_000059.3:c.1499del , LRG_293t1:c.1499del NP_000050.2:p.Gly500ValfsTer9
XM_011535203.1:c.1499del XP_011533505.1:p.Gly500ValfsTer9
XM_011535204.1:c.1499del XP_011533506.1:p.Gly500ValfsTer9
XM_011535205.1:c.1499del XP_011533507.1:p.Gly500ValfsTer9
NM_000059.4:c.1499del MANE Select NP_000050.3:p.Gly500ValfsTer9