Canonical Allele Identifier: CA017486
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 37827
ClinVar RCV Id: RCV000031408
dbSNP Id: rs397507304

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337537del , CM000675.2:g.32337537del GRCh38
NC_000013.10:g.32911674del , CM000675.1:g.32911674del GRCh37
NC_000013.9:g.31809674del NCBI36
NG_012772.3:g.27058del , LRG_293:g.27058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3182del ENSP00000434898.2:p.Lys1061SerfsTer16
ENST00000528762.2:c.3182del ENSP00000433168.2:p.Lys1061SerfsTer16
ENST00000530893.7:c.2813del ENSP00000499438.2:p.Lys938SerfsTer16
ENST00000665585.2:c.3182del ENSP00000499570.2:p.Lys1061SerfsTer16
ENST00000666593.2:c.3182del ENSP00000499256.2:p.Lys1061SerfsTer16
ENST00000700202.2:c.3182del ENSP00000514856.2:p.Lys1061SerfsTer16
ENST00000380152.8:c.3182del MANE Select ENSP00000369497.3:p.Lys1061SerfsTer16
ENST00000544455.6:c.3182del ENSP00000439902.1:p.Lys1061SerfsTer16
ENST00000614259.2:c.3182del ENSP00000506251.1:p.Lys1061SerfsTer16
ENST00000680887.1:c.3182del ENSP00000505508.1:p.Lys1061SerfsTer16
ENST00000380152.7:c.3182del ENSP00000369497.3:p.Lys1061SerfsTer16
ENST00000544455.5:c.3182del ENSP00000439902.1:p.Lys1061SerfsTer16
ENST00000614259.1:n.3182del
NM_000059.3:c.3182del , LRG_293t1:c.3182del NP_000050.2:p.Lys1061SerfsTer16
XM_011535203.1:c.3182del XP_011533505.1:p.Lys1061SerfsTer16
XM_011535204.1:c.3182del XP_011533506.1:p.Lys1061SerfsTer16
XM_011535205.1:c.3182del XP_011533507.1:p.Lys1061SerfsTer16
NM_000059.4:c.3182del MANE Select NP_000050.3:p.Lys1061SerfsTer16