Canonical Allele Identifier: CA16613968
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409487
dbSNP Id: rs1060502426

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338628del , CM000675.2:g.32338628del GRCh38
NC_000013.10:g.32912765del , CM000675.1:g.32912765del GRCh37
NC_000013.9:g.31810765del NCBI36
NG_012772.3:g.28149del , LRG_293:g.28149del

Transcript Alleles

HGVS Amino-acid change
ENST00000380152.8:c.4273del MANE Select ENSP00000369497.3:p.Asp1425IlefsTer23
ENST00000544455.6:c.4273del ENSP00000439902.1:p.Asp1425IlefsTer23
ENST00000614259.2:n.4273del ENSP00000506251.1:p.Asp1425IlefsTer23
ENST00000680887.1:c.4273del ENSP00000505508.1:p.Asp1425IlefsTer23
ENST00000380152.7:c.4273del ENSP00000369497.3:p.Asp1425IlefsTer23
ENST00000544455.5:c.4273del ENSP00000439902.1:p.Asp1425IlefsTer23
ENST00000614259.1:n.4273del
NM_000059.3:c.4273del , LRG_293t1:c.4273del NP_000050.2:p.Asp1425IlefsTer23
XM_011535203.1:c.4273del XP_011533505.1:p.Asp1425IlefsTer23
XM_011535204.1:c.4273del XP_011533506.1:p.Asp1425IlefsTer23
XM_011535205.1:c.4273del XP_011533507.1:p.Asp1425IlefsTer23
NM_000059.4:c.4273del MANE Select NP_000050.3:p.Asp1425IlefsTer23