Canonical Allele Identifier: CA16042140
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371845
ClinVar RCV Id: RCV001180643 RCV003475996
dbSNP Id: rs1057517565
MyVariant Identifiers: chr13:g.32913062_32913065del (hg19) chr13:g.32338925_32338928del (hg38)
PubMed: PMID:26187060
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338925_32338928del , CM000675.2:g.32338925_32338928del GRCh38
NC_000013.10:g.32913062_32913065del , CM000675.1:g.32913062_32913065del GRCh37
NC_000013.9:g.31811062_31811065del NCBI36
NG_012772.3:g.28446_28449del , LRG_293:g.28446_28449del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.4570_4573del ENSP00000434898.2:p.Phe1524IlefsTer18
ENST00000528762.2:c.4570_4573del ENSP00000433168.2:p.Phe1524IlefsTer18
ENST00000530893.7:c.4201_4204del ENSP00000499438.2:p.Phe1401IlefsTer18
ENST00000665585.2:c.4570_4573del ENSP00000499570.2:p.Phe1524IlefsTer18
ENST00000666593.2:c.4570_4573del ENSP00000499256.2:p.Phe1524IlefsTer18
ENST00000700202.2:c.4570_4573del ENSP00000514856.2:p.Phe1524IlefsTer18
ENST00000380152.8:c.4570_4573del MANE Select ENSP00000369497.3:p.Phe1524IlefsTer18
ENST00000544455.6:c.4570_4573del ENSP00000439902.1:p.Phe1524IlefsTer18
ENST00000614259.2:c.4570_4573del ENSP00000506251.1:p.Phe1524IlefsTer18
ENST00000680887.1:c.4570_4573del ENSP00000505508.1:p.Phe1524IlefsTer18
ENST00000380152.7:c.4570_4573del ENSP00000369497.3:p.Phe1524IlefsTer18
ENST00000544455.5:c.4570_4573del ENSP00000439902.1:p.Phe1524IlefsTer18
ENST00000614259.1:n.4570_4573del
NM_000059.3:c.4570_4573del , LRG_293t1:c.4570_4573del NP_000050.2:p.Phe1524IlefsTer18
XM_011535203.1:c.4570_4573del XP_011533505.1:p.Phe1524IlefsTer18
XM_011535204.1:c.4570_4573del XP_011533506.1:p.Phe1524IlefsTer18
XM_011535205.1:c.4570_4573del XP_011533507.1:p.Phe1524IlefsTer18
NM_000059.4:c.4570_4573del MANE Select NP_000050.3:p.Phe1524IlefsTer18
Search 100 bp 5'
Search 100 bp 3'