Canonical Allele Identifier: CA011224
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51087
ClinVar RCV Id: RCV000112896 RCV000496705
dbSNP Id: rs80359268
MyVariant Identifiers: chr13:g.32906840del (hg19) chr13:g.32332703del (hg38)
PubMed: PMID:15131399
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332703del , CM000675.2:g.32332703del GRCh38
NC_000013.10:g.32906840del , CM000675.1:g.32906840del GRCh37
NC_000013.9:g.31804840del NCBI36
NG_012772.3:g.22224del , LRG_293:g.22224del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1225del ENSP00000434898.2:p.Glu409ArgfsTer21
ENST00000528762.2:c.1225del ENSP00000433168.2:p.Glu409ArgfsTer21
ENST00000530893.7:c.856del ENSP00000499438.2:p.Glu286ArgfsTer21
ENST00000665585.2:c.1225del ENSP00000499570.2:p.Glu409ArgfsTer21
ENST00000666593.2:c.1225del ENSP00000499256.2:p.Glu409ArgfsTer21
ENST00000700202.2:c.1225del ENSP00000514856.2:p.Glu409ArgfsTer21
ENST00000700201.1:c.*1004del ENSP00000514855.1:n.*1004del
ENST00000380152.8:c.1225del MANE Select ENSP00000369497.3:p.Glu409ArgfsTer21
ENST00000544455.6:c.1225del ENSP00000439902.1:p.Glu409ArgfsTer21
ENST00000614259.2:c.1225del ENSP00000506251.1:p.Glu409ArgfsTer21
ENST00000680887.1:c.1225del ENSP00000505508.1:p.Glu409ArgfsTer21
ENST00000380152.7:c.1225del ENSP00000369497.3:p.Glu409ArgfsTer21
ENST00000530893.6:n.1423del
ENST00000544455.5:c.1225del ENSP00000439902.1:p.Glu409ArgfsTer21
ENST00000614259.1:n.1225del
NM_000059.3:c.1225del , LRG_293t1:c.1225del NP_000050.2:p.Glu409ArgfsTer21
XM_011535203.1:c.1225del XP_011533505.1:p.Glu409ArgfsTer21
XM_011535204.1:c.1225del XP_011533506.1:p.Glu409ArgfsTer21
XM_011535205.1:c.1225del XP_011533507.1:p.Glu409ArgfsTer21
NM_000059.4:c.1225del MANE Select NP_000050.3:p.Glu409ArgfsTer21
Search 100 bp 5'
Search 100 bp 3'