Canonical Allele Identifier: CA411096920
Gene: CHEK2 HGNC NCBI

Linked Data

dbSNP Id: rs2145805341

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695823T>A , CM000684.2:g.28695823T>A GRCh38
NC_000022.10:g.29091811T>A , CM000684.1:g.29091811T>A GRCh37
NC_000022.9:g.27421811T>A NCBI36
NG_008150.1:g.51012A>T
NG_008150.2:g.51044A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-581A>T ENSP00000518557.1:n.1009-581A>T
ENST00000402731.6:c.945A>T ENSP00000384835.2:p.Arg315Ser
ENST00000404276.6:c.1146A>T MANE Select ENSP00000385747.1:p.Arg382Ser
ENST00000425190.7:c.483A>T ENSP00000390244.2:p.Arg161Ser
ENST00000464581.6:c.486A>T ENSP00000483777.2:p.Arg162Ser
ENST00000648295.1:n.698A>T
ENST00000649563.1:c.483A>T ENSP00000496928.1:p.Arg161Ser
ENST00000650281.1:c.1146A>T ENSP00000497000.1:p.Arg382Ser
ENST00000328354.10:c.1146A>T ENSP00000329178.6:p.Arg382Ser
ENST00000348295.7:c.1059A>T ENSP00000329012.5:p.Arg353Ser
ENST00000382580.6:c.1275A>T ENSP00000372023.2:p.Arg425Ser
ENST00000402731.5:c.1059A>T ENSP00000384835.1:p.Arg353Ser
ENST00000403642.5:c.873A>T ENSP00000384919.1:p.Arg291Ser
ENST00000404276.5:c.1146A>T ENSP00000385747.1:p.Arg382Ser
ENST00000405598.5:c.1146A>T ENSP00000386087.1:p.Arg382Ser
ENST00000416671.5:c.*636A>T ENSP00000402225.1:n.*636A>T
ENST00000417588.5:c.1055A>T ENSP00000412901.1:n.1055A>T
ENST00000433728.5:c.1084A>T ENSP00000404400.1:n.1084A>T
ENST00000434810.5:c.377A>T
ENST00000448511.5:c.1036A>T ENSP00000404567.1:n.1036A>T
ENST00000456369.5:c.263+4015A>T
NM_001005735.1:c.1275A>T NP_001005735.1:p.Arg425Ser
NM_001257387.1:c.483A>T NP_001244316.1:p.Arg161Ser
NM_007194.3:c.1146A>T NP_009125.1:p.Arg382Ser
NM_145862.2:c.1059A>T NP_665861.1:p.Arg353Ser
XM_006724114.2:c.666A>T XP_006724177.1:p.Arg222Ser
XM_006724116.2:c.603A>T XP_006724179.2:p.Arg201Ser
XM_011529839.1:c.1305A>T XP_011528141.1:p.Arg435Ser
XM_011529840.1:c.1218A>T XP_011528142.1:p.Arg406Ser
XM_011529841.1:c.1074A>T XP_011528143.1:p.Arg358Ser
XM_011529842.1:c.975A>T XP_011528144.1:p.Arg325Ser
XM_011529843.1:c.945A>T XP_011528145.1:p.Arg315Ser
XM_011529845.1:c.483A>T XP_011528147.1:p.Arg161Ser
XR_937805.1:n.1305A>T
XR_937806.1:n.1213A>T
NM_001349956.1:c.945A>T NP_001336885.1:p.Arg315Ser
NM_007194.4:c.1146A>T MANE Select NP_009125.1:p.Arg382Ser
XM_006724114.3:c.699A>T XP_006724177.2:p.Arg233Ser
XM_011529839.2:c.1305A>T XP_011528141.1:p.Arg435Ser
XM_011529840.3:c.1218A>T XP_011528142.1:p.Arg406Ser
XM_011529842.2:c.975A>T XP_011528144.1:p.Arg325Ser
XM_011529845.2:c.483A>T XP_011528147.1:p.Arg161Ser
XM_017028560.1:c.1269A>T XP_016884049.1:p.Arg423Ser
XM_017028561.2:c.483A>T XP_016884050.1:p.Arg161Ser
XM_024452148.1:c.1176A>T XP_024307916.1:p.Arg392Ser
XM_024452149.1:c.1089A>T XP_024307917.1:p.Arg363Ser
XR_937805.2:n.1316A>T
XR_937806.2:n.1229A>T
NM_001005735.2:c.1275A>T NP_001005735.1:p.Arg425Ser
NM_001257387.2:c.483A>T NP_001244316.1:p.Arg161Ser
NM_001349956.2:c.945A>T NP_001336885.1:p.Arg315Ser