Canonical Allele Identifier: CA16619631
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421342
ClinVar RCV Id: RCV000478121 RCV000661853 RCV001012309 RCV002496866
dbSNP Id: rs1064795072
MyVariant Identifiers: chr13:g.32890612del (hg19) chr13:g.32316475del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316475del , CM000675.2:g.32316475del GRCh38
NC_000013.10:g.32890612del , CM000675.1:g.32890612del GRCh37
NC_000013.9:g.31788612del NCBI36
NG_012772.3:g.5996del , LRG_293:g.5996del
NG_017006.1:g.481del
NG_017006.2:g.3890del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.15del ENSP00000434898.2:p.Glu7ArgfsTer18
ENST00000528762.2:c.15del ENSP00000433168.2:p.Glu7ArgfsTer18
ENST00000530893.7:c.-351del ENSP00000499438.2:n.-351del
ENST00000665585.2:c.15del ENSP00000499570.2:p.Glu7ArgfsTer18
ENST00000666593.2:c.15del ENSP00000499256.2:p.Glu7ArgfsTer18
ENST00000700202.2:c.15del ENSP00000514856.2:p.Glu7ArgfsTer18
ENST00000700199.1:n.139del
ENST00000700200.1:n.139del
ENST00000700201.1:c.15del ENSP00000514855.1:p.Glu7ArgfsTer18
ENST00000380152.8:c.15del MANE Select ENSP00000369497.3:p.Glu7ArgfsTer18
ENST00000544455.6:c.15del ENSP00000439902.1:p.Glu7ArgfsTer18
ENST00000614259.2:c.15del ENSP00000506251.1:p.Glu7ArgfsTer18
ENST00000680887.1:c.15del ENSP00000505508.1:p.Glu7ArgfsTer18
ENST00000380152.7:c.15del ENSP00000369497.3:p.Glu7ArgfsTer18
ENST00000530893.6:n.217del
ENST00000544455.5:c.15del ENSP00000439902.1:p.Glu7ArgfsTer18
ENST00000614259.1:n.15del
NM_000059.3:c.15del , LRG_293t1:c.15del NP_000050.2:p.Glu7ArgfsTer18
XM_011535203.1:c.15del XP_011533505.1:p.Glu7ArgfsTer18
XM_011535204.1:c.15del XP_011533506.1:p.Glu7ArgfsTer18
XM_011535205.1:c.15del XP_011533507.1:p.Glu7ArgfsTer18
NM_000059.4:c.15del MANE Select NP_000050.3:p.Glu7ArgfsTer18
Search 100 bp 5'
Search 100 bp 3'