Canonical Allele Identifier: CA2082834950
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398278_32398283delinsGGAGAA , CM000675.2:g.32398278_32398283delinsGGAGAA GRCh38
NC_000013.10:g.32972415_32972420delinsGGAGAA , CM000675.1:g.32972415_32972420delinsGGAGAA GRCh37
NC_000013.9:g.31870415_31870420delinsGGAGAA NCBI36
NG_012772.3:g.87799_87804delinsGGAGAA , LRG_293:g.87799_87804delinsGGAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*288_*293delinsGGAGAA ENSP00000434898.2:n.*288_*293delinsGGAGAA
ENST00000528762.2:c.*1132_*1137delinsGGAGAA ENSP00000433168.2:n.*1132_*1137delinsGGAGAA
ENST00000530893.7:c.9396_9401delinsGGAGAA ENSP00000499438.2:p.Gly3132=
ENST00000665585.2:c.*1327_*1332delinsGGAGAA ENSP00000499570.2:n.*1327_*1332delinsGGAGAA
ENST00000700202.2:c.9714_9719delinsGGAGAA ENSP00000514856.2:p.Gly3238=
ENST00000700202.1:c.2181_2186delinsGGAGAA ENSP00000514856.1:p.Gly727=
ENST00000700203.1:n.1892_1897delinsGGAGAA
ENST00000380152.8:c.9765_9770delinsGGAGAA MANE Select ENSP00000369497.3:p.Gly3255=
ENST00000544455.6:c.9765_9770delinsGGAGAA ENSP00000439902.1:p.Gly3255=
ENST00000614259.2:c.9773_9778delinsGGAGAA ENSP00000506251.1:n.9773_9778delinsGGAGAA
ENST00000680887.1:c.9765_9770delinsGGAGAA ENSP00000505508.1:p.Gly3255=
ENST00000380152.7:c.9765_9770delinsGGAGAA ENSP00000369497.3:p.Gly3255=
ENST00000533776.1:n.353_358delinsGGAGAA
ENST00000544455.5:c.9765_9770delinsGGAGAA ENSP00000439902.1:p.Gly3255=
NM_000059.3:c.9765_9770delinsGGAGAA , LRG_293t1:c.9765_9770delinsGGAGAA NP_000050.2:p.Gly3255=
XM_011535203.1:c.9765_9770delinsGGAGAA XP_011533505.1:p.Gly3255=
XM_011535204.1:c.9669_9674delinsGGAGAA XP_011533506.1:p.Gly3223=
NM_000059.4:c.9765_9770delinsGGAGAA MANE Select NP_000050.3:p.Gly3255=