Canonical Allele Identifier: CA2695199689
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674524
ClinVar RCV Id: RCV003452719

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337815_32337816insG , CM000675.2:g.32337815_32337816insG GRCh38
NC_000013.10:g.32911952_32911953insG , CM000675.1:g.32911952_32911953insG GRCh37
NC_000013.9:g.31809952_31809953insG NCBI36
NG_012772.3:g.27336_27337insG , LRG_293:g.27336_27337insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.3460_3461insG ENSP00000434898.2:p.Thr1154SerfsTer4
ENST00000528762.2:c.3460_3461insG ENSP00000433168.2:p.Thr1154SerfsTer4
ENST00000530893.7:c.3091_3092insG ENSP00000499438.2:p.Thr1031SerfsTer4
ENST00000665585.2:c.3460_3461insG ENSP00000499570.2:p.Thr1154SerfsTer4
ENST00000666593.2:c.3460_3461insG ENSP00000499256.2:p.Thr1154SerfsTer4
ENST00000700202.2:c.3460_3461insG ENSP00000514856.2:p.Thr1154SerfsTer4
ENST00000380152.8:c.3460_3461insG MANE Select ENSP00000369497.3:p.Thr1154SerfsTer4
ENST00000544455.6:c.3460_3461insG ENSP00000439902.1:p.Thr1154SerfsTer4
ENST00000614259.2:c.3460_3461insG ENSP00000506251.1:p.Thr1154SerfsTer4
ENST00000680887.1:c.3460_3461insG ENSP00000505508.1:p.Thr1154SerfsTer4
ENST00000380152.7:c.3460_3461insG ENSP00000369497.3:p.Thr1154SerfsTer4
ENST00000544455.5:c.3460_3461insG ENSP00000439902.1:p.Thr1154SerfsTer4
ENST00000614259.1:n.3460_3461insG
NM_000059.3:c.3460_3461insG , LRG_293t1:c.3460_3461insG NP_000050.2:p.Thr1154SerfsTer4
XM_011535203.1:c.3460_3461insG XP_011533505.1:p.Thr1154SerfsTer4
XM_011535204.1:c.3460_3461insG XP_011533506.1:p.Thr1154SerfsTer4
XM_011535205.1:c.3460_3461insG XP_011533507.1:p.Thr1154SerfsTer4
NM_000059.4:c.3460_3461insG MANE Select NP_000050.3:p.Thr1154SerfsTer4