Canonical Allele Identifier: CA023357
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51963
ClinVar RCV Id: RCV000113502 RCV000496956
dbSNP Id: rs80359547
MyVariant Identifiers: chr13:g.32914396_32914399del (hg19) chr13:g.32340259_32340262del (hg38)
PubMed: PMID:11180605
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340259_32340262del , CM000675.2:g.32340259_32340262del GRCh38
NC_000013.10:g.32914396_32914399del , CM000675.1:g.32914396_32914399del GRCh37
NC_000013.9:g.31812396_31812399del NCBI36
NG_012772.3:g.29780_29783del , LRG_293:g.29780_29783del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5904_5907del ENSP00000434898.2:p.Val1969HisfsTer?
ENST00000528762.2:c.5904_5907del ENSP00000433168.2:p.Val1969HisfsTer?
ENST00000530893.7:c.5535_5538del ENSP00000499438.2:p.Val1846HisfsTer?
ENST00000665585.2:c.5904_5907del ENSP00000499570.2:p.Val1969HisfsTer?
ENST00000666593.2:c.5904_5907del ENSP00000499256.2:p.Val1969HisfsTer?
ENST00000700202.2:c.5904_5907del ENSP00000514856.2:p.Val1969HisfsTer?
ENST00000380152.8:c.5904_5907del MANE Select ENSP00000369497.3:p.Val1969HisfsTer?
ENST00000544455.6:c.5904_5907del ENSP00000439902.1:p.Val1969HisfsTer?
ENST00000614259.2:c.5904_5907del ENSP00000506251.1:p.Val1969HisfsTer?
ENST00000680887.1:c.5904_5907del ENSP00000505508.1:p.Val1969HisfsTer?
ENST00000380152.7:c.5904_5907del ENSP00000369497.3:p.Val1969HisfsTer?
ENST00000544455.5:c.5904_5907del ENSP00000439902.1:p.Val1969HisfsTer?
ENST00000614259.1:n.5904_5907del
NM_000059.3:c.5904_5907del , LRG_293t1:c.5904_5907del NP_000050.2:p.Val1969HisfsTer?
XM_011535203.1:c.5904_5907del XP_011533505.1:p.Val1969HisfsTer?
XM_011535204.1:c.5904_5907del XP_011533506.1:p.Val1969HisfsTer?
XM_011535205.1:c.5904_5907del XP_011533507.1:p.Val1969HisfsTer?
NM_000059.4:c.5904_5907del MANE Select NP_000050.3:p.Val1969HisfsTer?
Search 100 bp 5'
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