Canonical Allele Identifier: CA322999593
Community Standard Title: NM_007194.4(CHEK2):c.1568G>T (p.Arg523Leu)
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28687961C>A , CM000684.2:g.28687961C>A GRCh38
NC_000022.10:g.29083949C>A , CM000684.1:g.29083949C>A GRCh37
NC_000022.9:g.27413949C>A NCBI36
NG_008150.1:g.58874G>T
NG_008150.2:g.58906G>T

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1568G>T MANE Select NP_009125.1:p.Arg523Leu
ENST00000404276.6:c.1568G>T MANE Select ENSP00000385747.1:p.Arg523Leu
NM_001005735.1:c.1697G>T NP_001005735.1:p.Arg566Leu
NM_001005735.2:c.1697G>T NP_001005735.1:p.Arg566Leu
NM_001257387.1:c.905G>T NP_001244316.1:p.Arg302Leu
NM_001257387.2:c.905G>T NP_001244316.1:p.Arg302Leu
NM_001349956.1:c.1367G>T NP_001336885.1:p.Arg456Leu
NM_001349956.2:c.1367G>T NP_001336885.1:p.Arg456Leu
NM_007194.3:c.1568G>T NP_009125.1:p.Arg523Leu
NM_145862.2:c.1481G>T NP_665861.1:p.Arg494Leu
ENST00000328354.10:c.1568G>T ENSP00000329178.6:p.Arg523Leu
ENST00000348295.7:c.1481G>T ENSP00000329012.5:p.Arg494Leu
ENST00000382580.6:c.1697G>T ENSP00000372023.2:p.Arg566Leu
ENST00000402731.5:c.1481G>T ENSP00000384835.1:p.Arg494Leu
ENST00000402731.6:c.1367G>T ENSP00000384835.2:p.Arg456Leu
ENST00000403642.5:c.1295G>T ENSP00000384919.1:p.Arg432Leu
ENST00000404276.5:c.1568G>T ENSP00000385747.1:p.Arg523Leu
ENST00000405598.5:c.1568G>T ENSP00000386087.1:p.Arg523Leu
ENST00000416671.5:c.*1058G>T ENSP00000402225.1:n.*1058G>T
ENST00000417588.5:c.1477G>T ENSP00000412901.1:n.1477G>T
ENST00000425190.7:c.905G>T ENSP00000390244.2:p.Arg302Leu
ENST00000433728.5:c.1506G>T ENSP00000404400.1:n.1506G>T
ENST00000434810.5:c.766G>T
ENST00000448511.5:c.1458G>T ENSP00000404567.1:n.1458G>T
ENST00000456369.5:c.370G>T
ENST00000464581.6:c.908G>T ENSP00000483777.2:p.Arg303Leu
ENST00000472807.1:n.302G>T
ENST00000648295.1:n.1120G>T
ENST00000649563.1:c.905G>T ENSP00000496928.1:p.Arg302Leu
ENST00000650281.1:c.1568G>T ENSP00000497000.1:p.Arg523Leu
ENST00000711048.1:c.*303G>T ENSP00000518557.1:n.*303G>T
XM_006724114.2:c.1088G>T XP_006724177.1:p.Arg363Leu
XM_006724114.3:c.1121G>T XP_006724177.2:p.Arg374Leu
XM_006724116.2:c.1025G>T XP_006724179.2:p.Arg342Leu
XM_011529839.1:c.1727G>T XP_011528141.1:p.Arg576Leu
XM_011529839.2:c.1727G>T XP_011528141.1:p.Arg576Leu
XM_011529840.1:c.1640G>T XP_011528142.1:p.Arg547Leu
XM_011529840.3:c.1640G>T XP_011528142.1:p.Arg547Leu
XM_011529841.1:c.1496G>T XP_011528143.1:p.Arg499Leu
XM_011529842.1:c.1397G>T XP_011528144.1:p.Arg466Leu
XM_011529842.2:c.1397G>T XP_011528144.1:p.Arg466Leu
XM_011529843.1:c.1367G>T XP_011528145.1:p.Arg456Leu
XM_011529845.1:c.905G>T XP_011528147.1:p.Arg302Leu
XM_011529845.2:c.905G>T XP_011528147.1:p.Arg302Leu
XM_017028560.1:c.1691G>T XP_016884049.1:p.Arg564Leu
XM_017028561.2:c.905G>T XP_016884050.1:p.Arg302Leu
XM_024452148.1:c.1598G>T XP_024307916.1:p.Arg533Leu
XM_024452149.1:c.1511G>T XP_024307917.1:p.Arg504Leu
XR_937805.1:n.1727G>T
XR_937805.2:n.1738G>T