Canonical Allele Identifier: CA2082764162
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332498_32332500delinsATG , CM000675.2:g.32332498_32332500delinsATG GRCh38
NC_000013.10:g.32906635_32906637delinsATG , CM000675.1:g.32906635_32906637delinsATG GRCh37
NC_000013.9:g.31804635_31804637delinsATG NCBI36
NG_012772.3:g.22019_22021delinsATG , LRG_293:g.22019_22021delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.1020_1022delinsATG ENSP00000434898.2:p.Glu340=
ENST00000528762.2:c.1020_1022delinsATG ENSP00000433168.2:p.Glu340=
ENST00000530893.7:c.651_653delinsATG ENSP00000499438.2:p.Glu217=
ENST00000665585.2:c.1020_1022delinsATG ENSP00000499570.2:p.Glu340=
ENST00000666593.2:c.1020_1022delinsATG ENSP00000499256.2:p.Glu340=
ENST00000700202.2:c.1020_1022delinsATG ENSP00000514856.2:p.Glu340=
ENST00000700201.1:c.*799_*801delinsATG ENSP00000514855.1:n.*799_*801delinsATG
ENST00000380152.8:c.1020_1022delinsATG MANE Select ENSP00000369497.3:p.Glu340=
ENST00000544455.6:c.1020_1022delinsATG ENSP00000439902.1:p.Glu340=
ENST00000614259.2:c.1020_1022delinsATG ENSP00000506251.1:p.Glu340=
ENST00000680887.1:c.1020_1022delinsATG ENSP00000505508.1:p.Glu340=
ENST00000380152.7:c.1020_1022delinsATG ENSP00000369497.3:p.Glu340=
ENST00000530893.6:n.1218_1220delinsATG
ENST00000544455.5:c.1020_1022delinsATG ENSP00000439902.1:p.Glu340=
ENST00000614259.1:n.1020_1022delinsATG
NM_000059.3:c.1020_1022delinsATG , LRG_293t1:c.1020_1022delinsATG NP_000050.2:p.Glu340=
XM_011535203.1:c.1020_1022delinsATG XP_011533505.1:p.Glu340=
XM_011535204.1:c.1020_1022delinsATG XP_011533506.1:p.Glu340=
XM_011535205.1:c.1020_1022delinsATG XP_011533507.1:p.Glu340=
NM_000059.4:c.1020_1022delinsATG MANE Select NP_000050.3:p.Glu340=