Canonical Allele Identifier: CA020694
Gene: BRCA2 HGNC NCBI
BRCA Exchange:
ClinVar Variation:
dbSNP:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339067_32339068del , CM000675.2:g.32339067_32339068del GRCh38
NC_000013.10:g.32913204_32913205del , CM000675.1:g.32913204_32913205del GRCh37
NC_000013.9:g.31811204_31811205del NCBI36
NG_012772.3:g.28588_28589del , LRG_293:g.28588_28589del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.4712_4713del ENSP00000434898.2:p.Glu1571GlyfsTer3
ENST00000528762.2:c.4712_4713del ENSP00000433168.2:p.Glu1571GlyfsTer3
ENST00000530893.7:c.4343_4344del ENSP00000499438.2:p.Glu1448GlyfsTer3
ENST00000665585.2:c.4712_4713del ENSP00000499570.2:p.Glu1571GlyfsTer3
ENST00000666593.2:c.4712_4713del ENSP00000499256.2:p.Glu1571GlyfsTer3
ENST00000700202.2:c.4712_4713del ENSP00000514856.2:p.Glu1571GlyfsTer3
ENST00000380152.8:c.4712_4713del MANE Select ENSP00000369497.3:p.Glu1571GlyfsTer3
ENST00000544455.6:c.4712_4713del ENSP00000439902.1:p.Glu1571GlyfsTer3
ENST00000614259.2:c.4712_4713del ENSP00000506251.1:p.Glu1571GlyfsTer3
ENST00000680887.1:c.4712_4713del ENSP00000505508.1:p.Glu1571GlyfsTer3
ENST00000380152.7:c.4712_4713del ENSP00000369497.3:p.Glu1571GlyfsTer3
ENST00000544455.5:c.4712_4713del ENSP00000439902.1:p.Glu1571GlyfsTer3
ENST00000614259.1:n.4712_4713del
NM_000059.3:c.4712_4713del , LRG_293t1:c.4712_4713del NP_000050.2:p.Glu1571GlyfsTer3
XM_011535203.1:c.4712_4713del XP_011533505.1:p.Glu1571GlyfsTer3
XM_011535204.1:c.4712_4713del XP_011533506.1:p.Glu1571GlyfsTer3
XM_011535205.1:c.4712_4713del XP_011533507.1:p.Glu1571GlyfsTer3
NM_000059.4:c.4712_4713del MANE Select NP_000050.3:p.Glu1571GlyfsTer3