Canonical Allele Identifier: CA2400238255
Gene: CHEK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695737C= , CM000684.2:g.28695737C= GRCh38
NC_000022.10:g.29091725C= , CM000684.1:g.29091725C= GRCh37
NC_000022.9:g.27421725C= NCBI36
NG_008150.1:g.51098G=
NG_008150.2:g.51130G=

Transcript Alleles

HGVS Amino-acid Change
NM_007194.4:c.1232G= MANE Select NP_009125.1:p.Trp411=
ENST00000404276.6:c.1232G= MANE Select ENSP00000385747.1:p.Trp411=
NM_001005735.1:c.1361G= NP_001005735.1:p.Trp454=
NM_001005735.2:c.1361G= NP_001005735.1:p.Trp454=
NM_001257387.1:c.569G= NP_001244316.1:p.Trp190=
NM_001257387.2:c.569G= NP_001244316.1:p.Trp190=
NM_001349956.1:c.1031G= NP_001336885.1:p.Trp344=
NM_001349956.2:c.1031G= NP_001336885.1:p.Trp344=
NM_007194.3:c.1232G= NP_009125.1:p.Trp411=
NM_145862.2:c.1145G= NP_665861.1:p.Trp382=
ENST00000328354.10:c.1232G= ENSP00000329178.6:p.Trp411=
ENST00000348295.7:c.1145G= ENSP00000329012.5:p.Trp382=
ENST00000382580.6:c.1361G= ENSP00000372023.2:p.Trp454=
ENST00000402731.5:c.1145G= ENSP00000384835.1:p.Trp382=
ENST00000402731.6:c.1031G= ENSP00000384835.2:p.Trp344=
ENST00000403642.5:c.959G= ENSP00000384919.1:p.Trp320=
ENST00000404276.5:c.1232G= ENSP00000385747.1:p.Trp411=
ENST00000405598.5:c.1232G= ENSP00000386087.1:p.Trp411=
ENST00000416671.5:c.*722G= ENSP00000402225.1:n.*722G=
ENST00000417588.5:c.1141G= ENSP00000412901.1:n.1141G=
ENST00000425190.7:c.569G= ENSP00000390244.2:p.Trp190=
ENST00000433728.5:c.1170G= ENSP00000404400.1:n.1170G=
ENST00000434810.5:c.463G=
ENST00000448511.5:c.1122G= ENSP00000404567.1:n.1122G=
ENST00000456369.5:c.263+4101G=
ENST00000464581.6:c.572G= ENSP00000483777.2:p.Trp191=
ENST00000648295.1:n.784G=
ENST00000649563.1:c.569G= ENSP00000496928.1:p.Trp190=
ENST00000650281.1:c.1232G= ENSP00000497000.1:p.Trp411=
ENST00000711048.1:c.1009-495G= ENSP00000518557.1:n.1009-495G=
XM_006724114.2:c.752G= XP_006724177.1:p.Trp251=
XM_006724114.3:c.785G= XP_006724177.2:p.Trp262=
XM_006724116.2:c.689G= XP_006724179.2:p.Trp230=
XM_011529839.1:c.1391G= XP_011528141.1:p.Trp464=
XM_011529839.2:c.1391G= XP_011528141.1:p.Trp464=
XM_011529840.1:c.1304G= XP_011528142.1:p.Trp435=
XM_011529840.3:c.1304G= XP_011528142.1:p.Trp435=
XM_011529841.1:c.1160G= XP_011528143.1:p.Trp387=
XM_011529842.1:c.1061G= XP_011528144.1:p.Trp354=
XM_011529842.2:c.1061G= XP_011528144.1:p.Trp354=
XM_011529843.1:c.1031G= XP_011528145.1:p.Trp344=
XM_011529845.1:c.569G= XP_011528147.1:p.Trp190=
XM_011529845.2:c.569G= XP_011528147.1:p.Trp190=
XM_017028560.1:c.1355G= XP_016884049.1:p.Trp452=
XM_017028561.2:c.569G= XP_016884050.1:p.Trp190=
XM_024452148.1:c.1262G= XP_024307916.1:p.Trp421=
XM_024452149.1:c.1175G= XP_024307917.1:p.Trp392=
XR_937805.1:n.1391G=
XR_937805.2:n.1402G=