Canonical Allele Identifier: CA2825002169
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3148697
ClinVar RCV Id: RCV004442591

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379893_32379894insG , CM000675.2:g.32379893_32379894insG GRCh38
NC_000013.10:g.32954030_32954031insG , CM000675.1:g.32954030_32954031insG GRCh37
NC_000013.9:g.31852030_31852031insG NCBI36
NG_012772.3:g.69414_69415insG , LRG_293:g.69414_69415insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9097_9098insG ENSP00000434898.2:p.Thr3033SerfsTer11
ENST00000528762.2:c.*464_*465insG ENSP00000433168.2:n.*464_*465insG
ENST00000530893.7:c.8728_8729insG ENSP00000499438.2:p.Thr2910SerfsTer11
ENST00000665585.2:c.*659_*660insG ENSP00000499570.2:n.*659_*660insG
ENST00000666593.2:c.9097_9098insG ENSP00000499256.2:p.Thr3033SerfsTer11
ENST00000700202.2:c.9046_9047insG ENSP00000514856.2:p.Thr3016SerfsTer11
ENST00000700202.1:c.1513_1514insG ENSP00000514856.1:p.Thr505SerfsTer11
ENST00000700203.1:n.1224_1225insG
ENST00000380152.8:c.9097_9098insG MANE Select ENSP00000369497.3:p.Thr3033SerfsTer11
ENST00000544455.6:c.9097_9098insG ENSP00000439902.1:p.Thr3033SerfsTer11
ENST00000614259.2:c.9105_9106insG ENSP00000506251.1:n.9105_9106insG
ENST00000665585.1:c.1975_1976insG
ENST00000680887.1:c.9097_9098insG ENSP00000505508.1:p.Thr3033SerfsTer11
ENST00000380152.7:c.9097_9098insG ENSP00000369497.3:p.Thr3033SerfsTer11
ENST00000470094.1:c.54_55insG
ENST00000544455.5:c.9097_9098insG ENSP00000439902.1:p.Thr3033SerfsTer11
NM_000059.3:c.9097_9098insG , LRG_293t1:c.9097_9098insG NP_000050.2:p.Thr3033SerfsTer11
XM_011535203.1:c.9097_9098insG XP_011533505.1:p.Thr3033SerfsTer11
XM_011535204.1:c.9001_9002insG XP_011533506.1:p.Thr3001SerfsTer11
NM_000059.4:c.9097_9098insG MANE Select NP_000050.3:p.Thr3033SerfsTer11