Canonical Allele Identifier: CA2727670555
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137467656

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332580del , CM000675.2:g.32332580del GRCh38
NC_000013.10:g.32906717del , CM000675.1:g.32906717del GRCh37
NC_000013.9:g.31804717del NCBI36
NG_012772.3:g.22101del , LRG_293:g.22101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.1102del ENSP00000434898.2:p.Ser368GlnfsTer3
ENST00000528762.2:c.1102del ENSP00000433168.2:p.Ser368GlnfsTer3
ENST00000530893.7:c.733del ENSP00000499438.2:p.Ser245GlnfsTer3
ENST00000665585.2:c.1102del ENSP00000499570.2:p.Ser368GlnfsTer3
ENST00000666593.2:c.1102del ENSP00000499256.2:p.Ser368GlnfsTer3
ENST00000700202.2:c.1102del ENSP00000514856.2:p.Ser368GlnfsTer3
ENST00000700201.1:c.*881del ENSP00000514855.1:n.*881del
ENST00000380152.8:c.1102del MANE Select ENSP00000369497.3:p.Ser368GlnfsTer3
ENST00000544455.6:c.1102del ENSP00000439902.1:p.Ser368GlnfsTer3
ENST00000614259.2:c.1102del ENSP00000506251.1:p.Ser368GlnfsTer3
ENST00000680887.1:c.1102del ENSP00000505508.1:p.Ser368GlnfsTer3
ENST00000380152.7:c.1102del ENSP00000369497.3:p.Ser368GlnfsTer3
ENST00000530893.6:n.1300del
ENST00000544455.5:c.1102del ENSP00000439902.1:p.Ser368GlnfsTer3
ENST00000614259.1:n.1102del
NM_000059.3:c.1102del , LRG_293t1:c.1102del NP_000050.2:p.Ser368GlnfsTer3
XM_011535203.1:c.1102del XP_011533505.1:p.Ser368GlnfsTer3
XM_011535204.1:c.1102del XP_011533506.1:p.Ser368GlnfsTer3
XM_011535205.1:c.1102del XP_011533507.1:p.Ser368GlnfsTer3
NM_000059.4:c.1102del MANE Select NP_000050.3:p.Ser368GlnfsTer3