Canonical Allele Identifier: CA336502
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216857
dbSNP Id: rs863224828

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362663del , CM000675.2:g.32362663del GRCh38
NC_000013.10:g.32936800del , CM000675.1:g.32936800del GRCh37
NC_000013.9:g.31834800del NCBI36
NG_012772.3:g.52184del , LRG_293:g.52184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7946del ENSP00000434898.2:p.Pro2649GlnfsTer8
ENST00000528762.2:c.7946del ENSP00000433168.2:p.Pro2649GlnfsTer8
ENST00000530893.7:c.7577del ENSP00000499438.2:p.Pro2526GlnfsTer8
ENST00000665585.2:c.7946del ENSP00000499570.2:p.Pro2649GlnfsTer8
ENST00000666593.2:c.7946del ENSP00000499256.2:p.Pro2649GlnfsTer8
ENST00000700202.2:c.7946del ENSP00000514856.2:p.Pro2649GlnfsTer8
ENST00000700202.1:c.413del ENSP00000514856.1:p.Pro138GlnfsTer8
ENST00000380152.8:c.7946del MANE Select ENSP00000369497.3:p.Pro2649GlnfsTer8
ENST00000544455.6:c.7946del ENSP00000439902.1:p.Pro2649GlnfsTer8
ENST00000614259.2:c.7954del ENSP00000506251.1:n.7954del
ENST00000665585.1:c.511del
ENST00000680887.1:c.7946del ENSP00000505508.1:p.Pro2649GlnfsTer8
ENST00000380152.7:c.7946del ENSP00000369497.3:p.Pro2649GlnfsTer8
ENST00000544455.5:c.7946del ENSP00000439902.1:p.Pro2649GlnfsTer8
NM_000059.3:c.7946del , LRG_293t1:c.7946del NP_000050.2:p.Pro2649GlnfsTer8
XM_011535203.1:c.7946del XP_011533505.1:p.Pro2649GlnfsTer8
XM_011535204.1:c.7850del XP_011533506.1:p.Pro2617GlnfsTer8
XM_011535205.1:c.7946del XP_011533507.1:p.Pro2649GlnfsTer8
NM_000059.4:c.7946del MANE Select NP_000050.3:p.Pro2649GlnfsTer8