Canonical Allele Identifier: CA2400238325
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695821G= , CM000684.2:g.28695821G= GRCh38
NC_000022.10:g.29091809G= , CM000684.1:g.29091809G= GRCh37
NC_000022.9:g.27421809G= NCBI36
NG_008150.1:g.51014C=
NG_008150.2:g.51046C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-579C= ENSP00000518557.1:n.1009-579C=
ENST00000402731.6:c.947C= ENSP00000384835.2:p.Thr316=
ENST00000404276.6:c.1148C= MANE Select ENSP00000385747.1:p.Thr383=
ENST00000425190.7:c.485C= ENSP00000390244.2:p.Thr162=
ENST00000464581.6:c.488C= ENSP00000483777.2:p.Thr163=
ENST00000648295.1:n.700C=
ENST00000649563.1:c.485C= ENSP00000496928.1:p.Thr162=
ENST00000650281.1:c.1148C= ENSP00000497000.1:p.Thr383=
ENST00000328354.10:c.1148C= ENSP00000329178.6:p.Thr383=
ENST00000348295.7:c.1061C= ENSP00000329012.5:p.Thr354=
ENST00000382580.6:c.1277C= ENSP00000372023.2:p.Thr426=
ENST00000402731.5:c.1061C= ENSP00000384835.1:p.Thr354=
ENST00000403642.5:c.875C= ENSP00000384919.1:p.Thr292=
ENST00000404276.5:c.1148C= ENSP00000385747.1:p.Thr383=
ENST00000405598.5:c.1148C= ENSP00000386087.1:p.Thr383=
ENST00000416671.5:c.*638C= ENSP00000402225.1:n.*638C=
ENST00000417588.5:c.1057C= ENSP00000412901.1:n.1057C=
ENST00000433728.5:c.1086C= ENSP00000404400.1:n.1086C=
ENST00000434810.5:c.379C=
ENST00000448511.5:c.1038C= ENSP00000404567.1:n.1038C=
ENST00000456369.5:c.263+4017C=
NM_001005735.1:c.1277C= NP_001005735.1:p.Thr426=
NM_001257387.1:c.485C= NP_001244316.1:p.Thr162=
NM_007194.3:c.1148C= NP_009125.1:p.Thr383=
NM_145862.2:c.1061C= NP_665861.1:p.Thr354=
XM_006724114.2:c.668C= XP_006724177.1:p.Thr223=
XM_006724116.2:c.605C= XP_006724179.2:p.Thr202=
XM_011529839.1:c.1307C= XP_011528141.1:p.Thr436=
XM_011529840.1:c.1220C= XP_011528142.1:p.Thr407=
XM_011529841.1:c.1076C= XP_011528143.1:p.Thr359=
XM_011529842.1:c.977C= XP_011528144.1:p.Thr326=
XM_011529843.1:c.947C= XP_011528145.1:p.Thr316=
XM_011529845.1:c.485C= XP_011528147.1:p.Thr162=
XR_937805.1:n.1307C=
XR_937806.1:n.1215C=
NM_001349956.1:c.947C= NP_001336885.1:p.Thr316=
NM_007194.4:c.1148C= MANE Select NP_009125.1:p.Thr383=
XM_006724114.3:c.701C= XP_006724177.2:p.Thr234=
XM_011529839.2:c.1307C= XP_011528141.1:p.Thr436=
XM_011529840.3:c.1220C= XP_011528142.1:p.Thr407=
XM_011529842.2:c.977C= XP_011528144.1:p.Thr326=
XM_011529845.2:c.485C= XP_011528147.1:p.Thr162=
XM_017028560.1:c.1271C= XP_016884049.1:p.Thr424=
XM_017028561.2:c.485C= XP_016884050.1:p.Thr162=
XM_024452148.1:c.1178C= XP_024307916.1:p.Thr393=
XM_024452149.1:c.1091C= XP_024307917.1:p.Thr364=
XR_937805.2:n.1318C=
XR_937806.2:n.1231C=
NM_001005735.2:c.1277C= NP_001005735.1:p.Thr426=
NM_001257387.2:c.485C= NP_001244316.1:p.Thr162=
NM_001349956.2:c.947C= NP_001336885.1:p.Thr316=