Canonical Allele Identifier: CA018449
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51497
ClinVar RCV Id: RCV000257562 RCV000483680 RCV001382053 RCV001762131 RCV002453351
dbSNP Id: rs397507678
MyVariant Identifiers: chr13:g.32912133dupT (hg19) chr13:g.32337996dupT (hg38)
PubMed: PMID:10070953
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337996dup , CM000675.2:g.32337996dup GRCh38
NC_000013.10:g.32912133dup , CM000675.1:g.32912133dup GRCh37
NC_000013.9:g.31810133dup NCBI36
NG_012772.3:g.27517dup , LRG_293:g.27517dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.3641dup ENSP00000434898.2:p.Phe1216ValfsTer2
ENST00000528762.2:c.3641dup ENSP00000433168.2:p.Phe1216ValfsTer2
ENST00000530893.7:c.3272dup ENSP00000499438.2:p.Phe1093ValfsTer2
ENST00000665585.2:c.3641dup ENSP00000499570.2:p.Phe1216ValfsTer2
ENST00000666593.2:c.3641dup ENSP00000499256.2:p.Phe1216ValfsTer2
ENST00000700202.2:c.3641dup ENSP00000514856.2:p.Phe1216ValfsTer2
ENST00000380152.8:c.3641dup MANE Select ENSP00000369497.3:p.Phe1216ValfsTer2
ENST00000544455.6:c.3641dup ENSP00000439902.1:p.Phe1216ValfsTer2
ENST00000614259.2:c.3641dup ENSP00000506251.1:p.Phe1216ValfsTer2
ENST00000680887.1:c.3641dup ENSP00000505508.1:p.Phe1216ValfsTer2
ENST00000380152.7:c.3641dup ENSP00000369497.3:p.Phe1216ValfsTer2
ENST00000544455.5:c.3641dup ENSP00000439902.1:p.Phe1216ValfsTer2
ENST00000614259.1:n.3641dup
NM_000059.3:c.3641dup , LRG_293t1:c.3641dup NP_000050.2:p.Phe1216ValfsTer2
XM_011535203.1:c.3641dup XP_011533505.1:p.Phe1216ValfsTer2
XM_011535204.1:c.3641dup XP_011533506.1:p.Phe1216ValfsTer2
XM_011535205.1:c.3641dup XP_011533507.1:p.Phe1216ValfsTer2
NM_000059.4:c.3641dup MANE Select NP_000050.3:p.Phe1216ValfsTer2
Search 100 bp 5'
Search 100 bp 3'