Canonical Allele Identifier: CA2400238866
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28696969T= , CM000684.2:g.28696969T= GRCh38
NC_000022.10:g.29092957T= , CM000684.1:g.29092957T= GRCh37
NC_000022.9:g.27422957T= NCBI36
NG_008150.1:g.49866A=
NG_008150.2:g.49898A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-1727A= ENSP00000518557.1:n.1009-1727A=
ENST00000402731.6:c.826A= ENSP00000384835.2:p.Ile276=
ENST00000404276.6:c.1027A= MANE Select ENSP00000385747.1:p.Ile343=
ENST00000425190.7:c.364A= ENSP00000390244.2:p.Ile122=
ENST00000464581.6:c.367A= ENSP00000483777.2:p.Ile123=
ENST00000648295.1:n.579A=
ENST00000649563.1:c.364A= ENSP00000496928.1:p.Ile122=
ENST00000650281.1:c.1027A= ENSP00000497000.1:p.Ile343=
ENST00000328354.10:c.1027A= ENSP00000329178.6:p.Ile343=
ENST00000348295.7:c.1009-1096A= ENSP00000329012.5:n.1009-1096A=
ENST00000382580.6:c.1156A= ENSP00000372023.2:p.Ile386=
ENST00000402731.5:c.1009-1096A= ENSP00000384835.1:n.1009-1096A=
ENST00000403642.5:c.754A= ENSP00000384919.1:p.Ile252=
ENST00000404276.5:c.1027A= ENSP00000385747.1:p.Ile343=
ENST00000405598.5:c.1027A= ENSP00000386087.1:p.Ile343=
ENST00000416671.5:c.*517A= ENSP00000402225.1:n.*517A=
ENST00000417588.5:c.936A= ENSP00000412901.1:n.936A=
ENST00000425190.6:c.364A=
ENST00000433028.6:c.*752A= ENSP00000403659.1:n.*752A=
ENST00000433728.5:c.965A= ENSP00000404400.1:n.965A=
ENST00000434810.5:c.258A=
ENST00000447421.5:c.826A= ENSP00000397478.2:p.Ile276=
ENST00000448511.5:c.917A= ENSP00000404567.1:n.917A=
ENST00000456369.5:c.263+2869A=
ENST00000464581.5:c.367A= ENSP00000483777.1:p.Ile123=
ENST00000491919.5:n.584A=
NM_001005735.1:c.1156A= NP_001005735.1:p.Ile386=
NM_001257387.1:c.364A= NP_001244316.1:p.Ile122=
NM_007194.3:c.1027A= NP_009125.1:p.Ile343=
NM_145862.2:c.1009-1096A= NP_665861.1:n.1009-1096A=
XM_006724114.2:c.547A= XP_006724177.1:p.Ile183=
XM_006724116.2:c.484A= XP_006724179.2:p.Ile162=
XM_011529839.1:c.1186A= XP_011528141.1:p.Ile396=
XM_011529840.1:c.1168-1096A= XP_011528142.1:n.1168-1096A=
XM_011529841.1:c.955A= XP_011528143.1:p.Ile319=
XM_011529842.1:c.856A= XP_011528144.1:p.Ile286=
XM_011529843.1:c.826A= XP_011528145.1:p.Ile276=
XM_011529845.1:c.364A= XP_011528147.1:p.Ile122=
XR_937805.1:n.1186A=
XR_937806.1:n.1163-1096A=
NM_001349956.1:c.826A= NP_001336885.1:p.Ile276=
NM_007194.4:c.1027A= MANE Select NP_009125.1:p.Ile343=
XM_006724114.3:c.580A= XP_006724177.2:p.Ile194=
XM_011529839.2:c.1186A= XP_011528141.1:p.Ile396=
XM_011529840.3:c.1168-1096A= XP_011528142.1:n.1168-1096A=
XM_011529842.2:c.856A= XP_011528144.1:p.Ile286=
XM_011529845.2:c.364A= XP_011528147.1:p.Ile122=
XM_017028560.1:c.1150A= XP_016884049.1:p.Ile384=
XM_017028561.2:c.364A= XP_016884050.1:p.Ile122=
XM_024452148.1:c.1057A= XP_024307916.1:p.Ile353=
XM_024452149.1:c.1039-1096A= XP_024307917.1:n.1039-1096A=
XR_937805.2:n.1197A=
XR_937806.2:n.1179-1096A=
NM_001005735.2:c.1156A= NP_001005735.1:p.Ile386=
NM_001257387.2:c.364A= NP_001244316.1:p.Ile122=
NM_001349956.2:c.826A= NP_001336885.1:p.Ile276=