Canonical Allele Identifier: CA16613949
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409578
ClinVar RCV Id: RCV000470903 RCV000661555 RCV000777930
dbSNP Id: rs1060502478
MyVariant Identifiers: chr13:g.32936673del (hg19) chr13:g.32362536del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362536del , CM000675.2:g.32362536del GRCh38
NC_000013.10:g.32936673del , CM000675.1:g.32936673del GRCh37
NC_000013.9:g.31834673del NCBI36
NG_012772.3:g.52057del , LRG_293:g.52057del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7819del ENSP00000434898.2:p.Thr2607LeufsTer?
ENST00000528762.2:c.7819del ENSP00000433168.2:p.Thr2607LeufsTer?
ENST00000530893.7:c.7450del ENSP00000499438.2:p.Thr2484LeufsTer?
ENST00000665585.2:c.7819del ENSP00000499570.2:p.Thr2607LeufsTer?
ENST00000666593.2:c.7819del ENSP00000499256.2:p.Thr2607LeufsTer?
ENST00000700202.2:c.7819del ENSP00000514856.2:p.Thr2607LeufsTer?
ENST00000700202.1:c.286del ENSP00000514856.1:p.Thr96LeufsTer?
ENST00000380152.8:c.7819del MANE Select ENSP00000369497.3:p.Thr2607LeufsTer?
ENST00000544455.6:c.7819del ENSP00000439902.1:p.Thr2607LeufsTer?
ENST00000614259.2:c.7827del ENSP00000506251.1:p.Leu2610SerfsTer10
ENST00000665585.1:c.384del
ENST00000680887.1:c.7819del ENSP00000505508.1:p.Thr2607LeufsTer?
ENST00000380152.7:c.7819del ENSP00000369497.3:p.Thr2607LeufsTer?
ENST00000544455.5:c.7819del ENSP00000439902.1:p.Thr2607LeufsTer?
ENST00000614259.1:n.7827del
NM_000059.3:c.7819del , LRG_293t1:c.7819del NP_000050.2:p.Thr2607LeufsTer?
XM_011535203.1:c.7819del XP_011533505.1:p.Thr2607LeufsTer?
XM_011535204.1:c.7723del XP_011533506.1:p.Thr2575LeufsTer?
XM_011535205.1:c.7819del XP_011533507.1:p.Thr2607LeufsTer?
NM_000059.4:c.7819del MANE Select NP_000050.3:p.Thr2607LeufsTer?
Search 100 bp 5'
Search 100 bp 3'