Canonical Allele Identifier: CA411096571
Gene: CHEK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695723T>C , CM000684.2:g.28695723T>C GRCh38
NC_000022.10:g.29091711T>C , CM000684.1:g.29091711T>C GRCh37
NC_000022.9:g.27421711T>C NCBI36
NG_008150.1:g.51112A>G
NG_008150.2:g.51144A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.1009-481A>G ENSP00000518557.1:n.1009-481A>G
ENST00000402731.6:c.1045A>G ENSP00000384835.2:p.Ile349Val
ENST00000404276.6:c.1246A>G MANE Select ENSP00000385747.1:p.Ile416Val
ENST00000425190.7:c.583A>G ENSP00000390244.2:p.Ile195Val
ENST00000464581.6:c.586A>G ENSP00000483777.2:p.Ile196Val
ENST00000648295.1:n.798A>G
ENST00000649563.1:c.583A>G ENSP00000496928.1:p.Ile195Val
ENST00000650281.1:c.1246A>G ENSP00000497000.1:p.Ile416Val
ENST00000328354.10:c.1246A>G ENSP00000329178.6:p.Ile416Val
ENST00000348295.7:c.1159A>G ENSP00000329012.5:p.Ile387Val
ENST00000382580.6:c.1375A>G ENSP00000372023.2:p.Ile459Val
ENST00000402731.5:c.1159A>G ENSP00000384835.1:p.Ile387Val
ENST00000403642.5:c.973A>G ENSP00000384919.1:p.Ile325Val
ENST00000404276.5:c.1246A>G ENSP00000385747.1:p.Ile416Val
ENST00000405598.5:c.1246A>G ENSP00000386087.1:p.Ile416Val
ENST00000416671.5:c.*736A>G ENSP00000402225.1:n.*736A>G
ENST00000417588.5:c.1155A>G ENSP00000412901.1:n.1155A>G
ENST00000433728.5:c.1184A>G ENSP00000404400.1:n.1184A>G
ENST00000434810.5:c.477A>G
ENST00000448511.5:c.1136A>G ENSP00000404567.1:n.1136A>G
ENST00000456369.5:c.263+4115A>G
NM_001005735.1:c.1375A>G NP_001005735.1:p.Ile459Val
NM_001257387.1:c.583A>G NP_001244316.1:p.Ile195Val
NM_007194.3:c.1246A>G NP_009125.1:p.Ile416Val
NM_145862.2:c.1159A>G NP_665861.1:p.Ile387Val
XM_006724114.2:c.766A>G XP_006724177.1:p.Ile256Val
XM_006724116.2:c.703A>G XP_006724179.2:p.Ile235Val
XM_011529839.1:c.1405A>G XP_011528141.1:p.Ile469Val
XM_011529840.1:c.1318A>G XP_011528142.1:p.Ile440Val
XM_011529841.1:c.1174A>G XP_011528143.1:p.Ile392Val
XM_011529842.1:c.1075A>G XP_011528144.1:p.Ile359Val
XM_011529843.1:c.1045A>G XP_011528145.1:p.Ile349Val
XM_011529845.1:c.583A>G XP_011528147.1:p.Ile195Val
XR_937805.1:n.1405A>G
NM_001349956.1:c.1045A>G NP_001336885.1:p.Ile349Val
NM_007194.4:c.1246A>G MANE Select NP_009125.1:p.Ile416Val
XM_006724114.3:c.799A>G XP_006724177.2:p.Ile267Val
XM_011529839.2:c.1405A>G XP_011528141.1:p.Ile469Val
XM_011529840.3:c.1318A>G XP_011528142.1:p.Ile440Val
XM_011529842.2:c.1075A>G XP_011528144.1:p.Ile359Val
XM_011529845.2:c.583A>G XP_011528147.1:p.Ile195Val
XM_017028560.1:c.1369A>G XP_016884049.1:p.Ile457Val
XM_017028561.2:c.583A>G XP_016884050.1:p.Ile195Val
XM_024452148.1:c.1276A>G XP_024307916.1:p.Ile426Val
XM_024452149.1:c.1189A>G XP_024307917.1:p.Ile397Val
XR_937805.2:n.1416A>G
NM_001005735.2:c.1375A>G NP_001005735.1:p.Ile459Val
NM_001257387.2:c.583A>G NP_001244316.1:p.Ile195Val
NM_001349956.2:c.1045A>G NP_001336885.1:p.Ile349Val