Canonical Allele Identifier: CA2082829221
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376753_32376755delinsGAA , CM000675.2:g.32376753_32376755delinsGAA GRCh38
NC_000013.10:g.32950890_32950892delinsGAA , CM000675.1:g.32950890_32950892delinsGAA GRCh37
NC_000013.9:g.31848890_31848892delinsGAA NCBI36
NG_012772.3:g.66274_66276delinsGAA , LRG_293:g.66274_66276delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8716_8718delinsGAA ENSP00000434898.2:p.Glu2906=
ENST00000528762.2:c.*83_*85delinsGAA ENSP00000433168.2:n.*83_*85delinsGAA
ENST00000530893.7:c.8347_8349delinsGAA ENSP00000499438.2:p.Glu2783=
ENST00000665585.2:c.*278_*280delinsGAA ENSP00000499570.2:n.*278_*280delinsGAA
ENST00000666593.2:c.8716_8718delinsGAA ENSP00000499256.2:p.Glu2906=
ENST00000700202.2:c.8716_8718delinsGAA ENSP00000514856.2:p.Glu2906=
ENST00000700202.1:c.1183_1185delinsGAA ENSP00000514856.1:p.Glu395=
ENST00000700203.1:n.843_845delinsGAA
ENST00000380152.8:c.8716_8718delinsGAA MANE Select ENSP00000369497.3:p.Glu2906=
ENST00000544455.6:c.8716_8718delinsGAA ENSP00000439902.1:p.Glu2906=
ENST00000614259.2:c.8724_8726delinsGAA ENSP00000506251.1:n.8724_8726delinsGAA
ENST00000665585.1:c.1594_1596delinsGAA
ENST00000680887.1:c.8716_8718delinsGAA ENSP00000505508.1:p.Glu2906=
ENST00000380152.7:c.8716_8718delinsGAA ENSP00000369497.3:p.Glu2906=
ENST00000528762.1:c.278_280delinsGAA ENSP00000433168.1:n.278_280delinsGAA
ENST00000544455.5:c.8716_8718delinsGAA ENSP00000439902.1:p.Glu2906=
NM_000059.3:c.8716_8718delinsGAA , LRG_293t1:c.8716_8718delinsGAA NP_000050.2:p.Glu2906=
XM_011535203.1:c.8716_8718delinsGAA XP_011533505.1:p.Glu2906=
XM_011535204.1:c.8620_8622delinsGAA XP_011533506.1:p.Glu2874=
XM_011535205.1:c.8716_8718delinsGAA XP_011533507.1:p.Glu2906=
NM_000059.4:c.8716_8718delinsGAA MANE Select NP_000050.3:p.Glu2906=