Canonical Allele Identifier: CA10579823
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230575
ClinVar RCV Id: RCV000222200 RCV000661793
dbSNP Id: rs876658643
MyVariant Identifiers: chr13:g.32968847del (hg19) chr13:g.32394710del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394710del , CM000675.2:g.32394710del GRCh38
NC_000013.10:g.32968847del , CM000675.1:g.32968847del GRCh37
NC_000013.9:g.31866847del NCBI36
NG_012772.3:g.84231del , LRG_293:g.84231del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9278del ENSP00000434898.2:p.Leu3093CysfsTer11
ENST00000528762.2:c.*645del ENSP00000433168.2:n.*645del
ENST00000530893.7:c.8909del ENSP00000499438.2:p.Leu2970CysfsTer11
ENST00000665585.2:c.*840del ENSP00000499570.2:n.*840del
ENST00000666593.2:c.*123del ENSP00000499256.2:n.*123del
ENST00000700202.2:c.9227del ENSP00000514856.2:p.Leu3076CysfsTer11
ENST00000700202.1:c.1694del ENSP00000514856.1:p.Leu565CysfsTer11
ENST00000700203.1:n.1405del
ENST00000380152.8:c.9278del MANE Select ENSP00000369497.3:p.Leu3093CysfsTer11
ENST00000544455.6:c.9278del ENSP00000439902.1:p.Leu3093CysfsTer11
ENST00000614259.2:c.9286del ENSP00000506251.1:n.9286del
ENST00000665585.1:c.2156del
ENST00000666593.1:c.300del ENSP00000499256.1:n.300del
ENST00000680887.1:c.9278del ENSP00000505508.1:p.Leu3093CysfsTer11
ENST00000380152.7:c.9278del ENSP00000369497.3:p.Leu3093CysfsTer11
ENST00000470094.1:c.235del
ENST00000544455.5:c.9278del ENSP00000439902.1:p.Leu3093CysfsTer11
NM_000059.3:c.9278del , LRG_293t1:c.9278del NP_000050.2:p.Leu3093CysfsTer11
XM_011535203.1:c.9278del XP_011533505.1:p.Leu3093CysfsTer11
XM_011535204.1:c.9182del XP_011533506.1:p.Leu3061CysfsTer11
NM_000059.4:c.9278del MANE Select NP_000050.3:p.Leu3093CysfsTer11
Search 100 bp 5'
Search 100 bp 3'