Canonical Allele Identifier: CA011007
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51074
ClinVar RCV Id: RCV000043749 RCV000241066 RCV000483184 RCV001010021
dbSNP Id: rs397507573
MyVariant Identifiers: chr13:g.32893261del (hg19) chr13:g.32319124del (hg38)
PubMed: PMID:16683254 PMID:19949876
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319124del , CM000675.2:g.32319124del GRCh38
NC_000013.10:g.32893261del , CM000675.1:g.32893261del GRCh37
NC_000013.9:g.31791261del NCBI36
NG_012772.3:g.8645del , LRG_293:g.8645del
NG_017006.2:g.1240del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.115del ENSP00000434898.2:p.Ala39LeufsTer?
ENST00000528762.2:c.115del ENSP00000433168.2:p.Ala39LeufsTer?
ENST00000530893.7:c.-255del ENSP00000499438.2:n.-255del
ENST00000665585.2:c.115del ENSP00000499570.2:p.Ala39LeufsTer?
ENST00000666593.2:c.115del ENSP00000499256.2:p.Ala39LeufsTer?
ENST00000700202.2:c.115del ENSP00000514856.2:p.Ala39LeufsTer?
ENST00000700200.1:n.191+2597del
ENST00000700201.1:c.115del ENSP00000514855.1:p.Ala39LeufsTer?
ENST00000380152.8:c.115del MANE Select ENSP00000369497.3:p.Ala39LeufsTer?
ENST00000544455.6:c.115del ENSP00000439902.1:p.Ala39LeufsTer?
ENST00000614259.2:c.115del ENSP00000506251.1:p.Ala39LeufsTer?
ENST00000680887.1:c.115del ENSP00000505508.1:p.Ala39LeufsTer?
ENST00000380152.7:c.115del ENSP00000369497.3:p.Ala39LeufsTer?
ENST00000530893.6:n.313del
ENST00000544455.5:c.115del ENSP00000439902.1:p.Ala39LeufsTer?
ENST00000614259.1:n.115del
NM_000059.3:c.115del , LRG_293t1:c.115del NP_000050.2:p.Ala39LeufsTer?
XM_011535203.1:c.115del XP_011533505.1:p.Ala39LeufsTer?
XM_011535204.1:c.115del XP_011533506.1:p.Ala39LeufsTer?
XM_011535205.1:c.115del XP_011533507.1:p.Ala39LeufsTer?
NM_000059.4:c.115del MANE Select NP_000050.3:p.Ala39LeufsTer?
Search 100 bp 5'
Search 100 bp 3'