Canonical Allele Identifier: CA10589455
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 267040
ClinVar RCV Id: RCV000257854
dbSNP Id: rs886040733

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362595_32362598dup , CM000675.2:g.32362595_32362598dup GRCh38
NC_000013.10:g.32936732_32936735dup , CM000675.1:g.32936732_32936735dup GRCh37
NC_000013.9:g.31834732_31834735dup NCBI36
NG_012772.3:g.52116_52119dup , LRG_293:g.52116_52119dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7878_7881dup ENSP00000434898.2:p.Ile2628AspfsTer14
ENST00000528762.2:c.7878_7881dup ENSP00000433168.2:p.Ile2628AspfsTer14
ENST00000530893.7:c.7509_7512dup ENSP00000499438.2:p.Ile2505AspfsTer14
ENST00000665585.2:c.7878_7881dup ENSP00000499570.2:p.Ile2628AspfsTer14
ENST00000666593.2:c.7878_7881dup ENSP00000499256.2:p.Ile2628AspfsTer14
ENST00000700202.2:c.7878_7881dup ENSP00000514856.2:p.Ile2628AspfsTer14
ENST00000700202.1:c.345_348dup ENSP00000514856.1:p.Ile117AspfsTer14
ENST00000380152.8:c.7878_7881dup MANE Select ENSP00000369497.3:p.Ile2628AspfsTer14
ENST00000544455.6:c.7878_7881dup ENSP00000439902.1:p.Ile2628AspfsTer14
ENST00000614259.2:c.7886_7889dup ENSP00000506251.1:p.Tyr2631IlefsTer?
ENST00000665585.1:c.443_446dup
ENST00000680887.1:c.7878_7881dup ENSP00000505508.1:p.Ile2628AspfsTer14
ENST00000380152.7:c.7878_7881dup ENSP00000369497.3:p.Ile2628AspfsTer14
ENST00000544455.5:c.7878_7881dup ENSP00000439902.1:p.Ile2628AspfsTer14
ENST00000614259.1:n.7886_7889dup
NM_000059.3:c.7878_7881dup , LRG_293t1:c.7878_7881dup NP_000050.2:p.Ile2628AspfsTer14
XM_011535203.1:c.7878_7881dup XP_011533505.1:p.Ile2628AspfsTer14
XM_011535204.1:c.7782_7785dup XP_011533506.1:p.Ile2596AspfsTer14
XM_011535205.1:c.7878_7881dup XP_011533507.1:p.Ile2628AspfsTer14
NM_000059.4:c.7878_7881dup MANE Select NP_000050.3:p.Ile2628AspfsTer14