Canonical Allele Identifier: CA294024
Community Standard Title: NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28687962G>A , CM000684.2:g.28687962G>A GRCh38
NC_000022.10:g.29083950G>A , CM000684.1:g.29083950G>A GRCh37
NC_000022.9:g.27413950G>A NCBI36
NG_008150.1:g.58873C>T
NG_008150.2:g.58905C>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1567C>T MANE Select NP_009125.1:p.Arg523Cys
ENST00000404276.6:c.1567C>T MANE Select ENSP00000385747.1:p.Arg523Cys
NM_001005735.1:c.1696C>T NP_001005735.1:p.Arg566Cys
NM_001005735.2:c.1696C>T NP_001005735.1:p.Arg566Cys
NM_001257387.1:c.904C>T NP_001244316.1:p.Arg302Cys
NM_001257387.2:c.904C>T NP_001244316.1:p.Arg302Cys
NM_001349956.1:c.1366C>T NP_001336885.1:p.Arg456Cys
NM_001349956.2:c.1366C>T NP_001336885.1:p.Arg456Cys
NM_007194.3:c.1567C>T NP_009125.1:p.Arg523Cys
NM_145862.2:c.1480C>T NP_665861.1:p.Arg494Cys
ENST00000328354.10:c.1567C>T ENSP00000329178.6:p.Arg523Cys
ENST00000348295.7:c.1480C>T ENSP00000329012.5:p.Arg494Cys
ENST00000382580.6:c.1696C>T ENSP00000372023.2:p.Arg566Cys
ENST00000402731.5:c.1480C>T ENSP00000384835.1:p.Arg494Cys
ENST00000402731.6:c.1366C>T ENSP00000384835.2:p.Arg456Cys
ENST00000403642.5:c.1294C>T ENSP00000384919.1:p.Arg432Cys
ENST00000404276.5:c.1567C>T ENSP00000385747.1:p.Arg523Cys
ENST00000405598.5:c.1567C>T ENSP00000386087.1:p.Arg523Cys
ENST00000416671.5:c.*1057C>T ENSP00000402225.1:n.*1057C>T
ENST00000417588.5:c.1476C>T ENSP00000412901.1:n.1476C>T
ENST00000425190.7:c.904C>T ENSP00000390244.2:p.Arg302Cys
ENST00000433728.5:c.1505C>T ENSP00000404400.1:n.1505C>T
ENST00000434810.5:c.765C>T
ENST00000448511.5:c.1457C>T ENSP00000404567.1:n.1457C>T
ENST00000456369.5:c.369C>T
ENST00000464581.6:c.907C>T ENSP00000483777.2:p.Arg303Cys
ENST00000472807.1:n.301C>T
ENST00000648295.1:n.1119C>T
ENST00000649563.1:c.904C>T ENSP00000496928.1:p.Arg302Cys
ENST00000650281.1:c.1567C>T ENSP00000497000.1:p.Arg523Cys
ENST00000711048.1:c.*302C>T ENSP00000518557.1:n.*302C>T
XM_006724114.2:c.1087C>T XP_006724177.1:p.Arg363Cys
XM_006724114.3:c.1120C>T XP_006724177.2:p.Arg374Cys
XM_006724116.2:c.1024C>T XP_006724179.2:p.Arg342Cys
XM_011529839.1:c.1726C>T XP_011528141.1:p.Arg576Cys
XM_011529839.2:c.1726C>T XP_011528141.1:p.Arg576Cys
XM_011529840.1:c.1639C>T XP_011528142.1:p.Arg547Cys
XM_011529840.3:c.1639C>T XP_011528142.1:p.Arg547Cys
XM_011529841.1:c.1495C>T XP_011528143.1:p.Arg499Cys
XM_011529842.1:c.1396C>T XP_011528144.1:p.Arg466Cys
XM_011529842.2:c.1396C>T XP_011528144.1:p.Arg466Cys
XM_011529843.1:c.1366C>T XP_011528145.1:p.Arg456Cys
XM_011529845.1:c.904C>T XP_011528147.1:p.Arg302Cys
XM_011529845.2:c.904C>T XP_011528147.1:p.Arg302Cys
XM_017028560.1:c.1690C>T XP_016884049.1:p.Arg564Cys
XM_017028561.2:c.904C>T XP_016884050.1:p.Arg302Cys
XM_024452148.1:c.1597C>T XP_024307916.1:p.Arg533Cys
XM_024452149.1:c.1510C>T XP_024307917.1:p.Arg504Cys
XR_937805.1:n.1726C>T
XR_937805.2:n.1737C>T