Canonical Allele Identifier: CA919243005
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1566261080

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398355del , CM000675.2:g.32398355del GRCh38
NC_000013.10:g.32972492del , CM000675.1:g.32972492del GRCh37
NC_000013.9:g.31870492del NCBI36
NG_012772.3:g.87876del , LRG_293:g.87876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*365del ENSP00000434898.2:n.*365del
ENST00000528762.2:c.*1209del ENSP00000433168.2:n.*1209del
ENST00000530893.7:c.9473del ENSP00000499438.2:p.Pro3158HisfsTer?
ENST00000665585.2:c.*1404del ENSP00000499570.2:n.*1404del
ENST00000700202.2:c.9791del ENSP00000514856.2:p.Pro3264HisfsTer?
ENST00000700202.1:c.2258del ENSP00000514856.1:p.Pro753HisfsTer?
ENST00000700203.1:n.1969del
ENST00000380152.8:c.9842del MANE Select ENSP00000369497.3:p.Pro3281HisfsTer?
ENST00000544455.6:c.9842del ENSP00000439902.1:p.Pro3281HisfsTer?
ENST00000614259.2:c.9850del ENSP00000506251.1:n.9850del
ENST00000680887.1:c.9842del ENSP00000505508.1:p.Pro3281HisfsTer?
ENST00000380152.7:c.9842del ENSP00000369497.3:p.Pro3281HisfsTer?
ENST00000533776.1:n.430del
ENST00000544455.5:c.9842del ENSP00000439902.1:p.Pro3281HisfsTer?
NM_000059.3:c.9842del , LRG_293t1:c.9842del NP_000050.2:p.Pro3281HisfsTer?
XM_011535203.1:c.9842del XP_011533505.1:p.Pro3281HisfsTer?
XM_011535204.1:c.9746del XP_011533506.1:p.Pro3249HisfsTer?
NM_000059.4:c.9842del MANE Select NP_000050.3:p.Pro3281HisfsTer?