Canonical Allele Identifier: CA026039
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 52781
ClinVar RCV Id: RCV001269937 RCV001380997 RCV002371875
dbSNP Id: rs397508040
MyVariant Identifiers: chr13:g.32954253del (hg19) chr13:g.32380116del (hg38)
PubMed: PMID:16683254
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380116del , CM000675.2:g.32380116del GRCh38
NC_000013.10:g.32954253del , CM000675.1:g.32954253del GRCh37
NC_000013.9:g.31852253del NCBI36
NG_012772.3:g.69637del , LRG_293:g.69637del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9227del ENSP00000434898.2:p.Gly3076AspfsTer7
ENST00000528762.2:c.*594del ENSP00000433168.2:n.*594del
ENST00000530893.7:c.8858del ENSP00000499438.2:p.Gly2953AspfsTer7
ENST00000665585.2:c.*789del ENSP00000499570.2:n.*789del
ENST00000666593.2:c.9227del ENSP00000499256.2:p.Gly3076AspfsTer7
ENST00000700202.2:c.9176del ENSP00000514856.2:p.Gly3059AspfsTer7
ENST00000700202.1:c.1643del ENSP00000514856.1:p.Gly548AspfsTer7
ENST00000700203.1:n.1354del
ENST00000380152.8:c.9227del MANE Select ENSP00000369497.3:p.Gly3076AspfsTer7
ENST00000544455.6:c.9227del ENSP00000439902.1:p.Gly3076AspfsTer7
ENST00000614259.2:c.9235del ENSP00000506251.1:n.9235del
ENST00000665585.1:c.2105del
ENST00000666593.1:c.110del ENSP00000499256.1:p.Gly37AspfsTer7
ENST00000680887.1:c.9227del ENSP00000505508.1:p.Gly3076AspfsTer7
ENST00000380152.7:c.9227del ENSP00000369497.3:p.Gly3076AspfsTer7
ENST00000470094.1:c.184del
ENST00000544455.5:c.9227del ENSP00000439902.1:p.Gly3076AspfsTer7
NM_000059.3:c.9227del , LRG_293t1:c.9227del NP_000050.2:p.Gly3076AspfsTer7
XM_011535203.1:c.9227del XP_011533505.1:p.Gly3076AspfsTer7
XM_011535204.1:c.9131del XP_011533506.1:p.Gly3044AspfsTer7
NM_000059.4:c.9227del MANE Select NP_000050.3:p.Gly3076AspfsTer7
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