Canonical Allele Identifier: CA018683
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 125980
ClinVar RCV Id: RCV000113041 RCV000496221
dbSNP Id: rs80359400
MyVariant Identifiers: chr13:g.32890634_32890635insT (hg19) chr13:g.32316497_32316498insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32316497_32316498insT , CM000675.2:g.32316497_32316498insT GRCh38
NC_000013.10:g.32890634_32890635insT , CM000675.1:g.32890634_32890635insT GRCh37
NC_000013.9:g.31788634_31788635insT NCBI36
NG_012772.3:g.6018_6019insT , LRG_293:g.6018_6019insT
NG_017006.1:g.457_458insA
NG_017006.2:g.3866_3867insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.37_38insT ENSP00000434898.2:p.Glu13ValfsTer4
ENST00000528762.2:c.37_38insT ENSP00000433168.2:p.Glu13ValfsTer4
ENST00000530893.7:c.-329_-328insT ENSP00000499438.2:n.-329_-328insT
ENST00000665585.2:c.37_38insT ENSP00000499570.2:p.Glu13ValfsTer4
ENST00000666593.2:c.37_38insT ENSP00000499256.2:p.Glu13ValfsTer4
ENST00000700202.2:c.37_38insT ENSP00000514856.2:p.Glu13ValfsTer4
ENST00000700199.1:n.161_162insT
ENST00000700200.1:n.161_162insT
ENST00000700201.1:c.37_38insT ENSP00000514855.1:p.Glu13ValfsTer4
ENST00000380152.8:c.37_38insT MANE Select ENSP00000369497.3:p.Glu13ValfsTer4
ENST00000544455.6:c.37_38insT ENSP00000439902.1:p.Glu13ValfsTer4
ENST00000614259.2:c.37_38insT ENSP00000506251.1:p.Glu13ValfsTer4
ENST00000680887.1:c.37_38insT ENSP00000505508.1:p.Glu13ValfsTer4
ENST00000380152.7:c.37_38insT ENSP00000369497.3:p.Glu13ValfsTer4
ENST00000530893.6:n.239_240insT
ENST00000544455.5:c.37_38insT ENSP00000439902.1:p.Glu13ValfsTer4
ENST00000614259.1:n.37_38insT
NM_000059.3:c.37_38insT , LRG_293t1:c.37_38insT NP_000050.2:p.Glu13ValfsTer4
XM_011535203.1:c.37_38insT XP_011533505.1:p.Glu13ValfsTer4
XM_011535204.1:c.37_38insT XP_011533506.1:p.Glu13ValfsTer4
XM_011535205.1:c.37_38insT XP_011533507.1:p.Glu13ValfsTer4
NM_000059.4:c.37_38insT MANE Select NP_000050.3:p.Glu13ValfsTer4
Search 100 bp 5'
Search 100 bp 3'