Canonical Allele Identifier: CA411101227

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28703548T>A , CM000684.2:g.28703548T>A	GRCh38
NC_000022.10:g.29099536T>A , CM000684.1:g.29099536T>A	GRCh37
NC_000022.9:g.27429536T>A	NCBI36
NG_008150.1:g.43287A>T
NG_008150.2:g.43319A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007194.4:c.865A>T MANE Select	NP_009125.1:p.Lys289Ter
ENST00000404276.6:c.865A>T MANE Select	ENSP00000385747.1:p.Lys289Ter
NM_001005735.1:c.994A>T	NP_001005735.1:p.Lys332Ter
NM_001005735.2:c.994A>T	NP_001005735.1:p.Lys332Ter
NM_001257387.1:c.202A>T	NP_001244316.1:p.Lys68Ter
NM_001257387.2:c.202A>T	NP_001244316.1:p.Lys68Ter
NM_001349956.1:c.664A>T	NP_001336885.1:p.Lys222Ter
NM_001349956.2:c.664A>T	NP_001336885.1:p.Lys222Ter
NM_007194.3:c.865A>T	NP_009125.1:p.Lys289Ter
NM_145862.2:c.865A>T	NP_665861.1:p.Lys289Ter
ENST00000328354.10:c.865A>T	ENSP00000329178.6:p.Lys289Ter
ENST00000348295.7:c.865A>T	ENSP00000329012.5:p.Lys289Ter
ENST00000382580.6:c.994A>T	ENSP00000372023.2:p.Lys332Ter
ENST00000402731.5:c.865A>T	ENSP00000384835.1:p.Lys289Ter
ENST00000402731.6:c.664A>T	ENSP00000384835.2:p.Lys222Ter
ENST00000403642.5:c.592A>T	ENSP00000384919.1:p.Lys198Ter
ENST00000404276.5:c.865A>T	ENSP00000385747.1:p.Lys289Ter
ENST00000405598.5:c.865A>T	ENSP00000386087.1:p.Lys289Ter
ENST00000416671.5:c.*355A>T	ENSP00000402225.1:n.*355A>T
ENST00000417588.5:c.774A>T	ENSP00000412901.1:n.774A>T
ENST00000425190.6:c.202A>T	ENSP00000390244.1:p.Lys68Ter
ENST00000425190.7:c.202A>T	ENSP00000390244.2:p.Lys68Ter
ENST00000433028.6:c.*590A>T	ENSP00000403659.1:n.*590A>T
ENST00000433728.5:c.847-3611A>T	ENSP00000404400.1:n.847-3611A>T
ENST00000434810.5:c.96A>T
ENST00000439346.5:c.336A>T	ENSP00000396903.1:n.336A>T
ENST00000439346.6:c.774A>T	ENSP00000396903.2:n.774A>T
ENST00000447421.5:c.664A>T	ENSP00000397478.2:p.Lys222Ter
ENST00000448511.5:c.755A>T	ENSP00000404567.1:n.755A>T
ENST00000456369.5:c.120A>T
ENST00000464581.5:c.205A>T	ENSP00000483777.1:p.Lys69Ter
ENST00000464581.6:c.205A>T	ENSP00000483777.2:p.Lys69Ter
ENST00000491919.5:n.422A>T
ENST00000648295.1:n.417A>T
ENST00000649563.1:c.202A>T	ENSP00000496928.1:p.Lys68Ter
ENST00000650281.1:c.865A>T	ENSP00000497000.1:p.Lys289Ter
ENST00000711048.1:c.865A>T	ENSP00000518557.1:p.Lys289Ter
XM_006724114.2:c.385A>T	XP_006724177.1:p.Lys129Ter
XM_006724114.3:c.418A>T	XP_006724177.2:p.Lys140Ter
XM_006724116.2:c.322A>T	XP_006724179.2:p.Lys108Ter
XM_011529839.1:c.1024A>T	XP_011528141.1:p.Lys342Ter
XM_011529839.2:c.1024A>T	XP_011528141.1:p.Lys342Ter
XM_011529840.1:c.1024A>T	XP_011528142.1:p.Lys342Ter
XM_011529840.3:c.1024A>T	XP_011528142.1:p.Lys342Ter
XM_011529841.1:c.793A>T	XP_011528143.1:p.Lys265Ter
XM_011529842.1:c.694A>T	XP_011528144.1:p.Lys232Ter
XM_011529842.2:c.694A>T	XP_011528144.1:p.Lys232Ter
XM_011529843.1:c.664A>T	XP_011528145.1:p.Lys222Ter
XM_011529844.1:c.1024A>T	XP_011528146.1:p.Lys342Ter
XM_011529844.2:c.1024A>T	XP_011528146.1:p.Lys342Ter
XM_011529845.1:c.202A>T	XP_011528147.1:p.Lys68Ter
XM_011529845.2:c.202A>T	XP_011528147.1:p.Lys68Ter
XM_017028560.1:c.988A>T	XP_016884049.1:p.Lys330Ter
XM_017028561.2:c.202A>T	XP_016884050.1:p.Lys68Ter
XM_024452148.1:c.895A>T	XP_024307916.1:p.Lys299Ter
XM_024452149.1:c.895A>T	XP_024307917.1:p.Lys299Ter
XR_937805.1:n.1068-3611A>T
XR_937805.2:n.1079-3611A>T
XR_937806.1:n.1063-3611A>T
XR_937806.2:n.1079-3611A>T
XR_937807.1:n.1063-3611A>T
XR_937807.2:n.1079-3611A>T