Canonical Allele Identifier: CA411096833

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1056503
• ClinVar RCV Id: RCV003325567 ; RCV001365348
• dbSNP Id: rs2145804544
• MyVariant Identifiers: chr22:g.29091791G>A (hg19) ; chr22:g.28695803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695803G>A , CM000684.2:g.28695803G>A	GRCh38
NC_000022.10:g.29091791G>A , CM000684.1:g.29091791G>A	GRCh37
NC_000022.9:g.27421791G>A	NCBI36
NG_008150.1:g.51032C>T
NG_008150.2:g.51064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-561C>T	ENSP00000518557.1:n.1009-561C>T
ENST00000402731.6:c.965C>T	ENSP00000384835.2:p.Thr322Ile
ENST00000404276.6:c.1166C>T MANE Select	ENSP00000385747.1:p.Thr389Ile
ENST00000425190.7:c.503C>T	ENSP00000390244.2:p.Thr168Ile
ENST00000464581.6:c.506C>T	ENSP00000483777.2:p.Thr169Ile
ENST00000648295.1:n.718C>T
ENST00000649563.1:c.503C>T	ENSP00000496928.1:p.Thr168Ile
ENST00000650281.1:c.1166C>T	ENSP00000497000.1:p.Thr389Ile
ENST00000328354.10:c.1166C>T	ENSP00000329178.6:p.Thr389Ile
ENST00000348295.7:c.1079C>T	ENSP00000329012.5:p.Thr360Ile
ENST00000382580.6:c.1295C>T	ENSP00000372023.2:p.Thr432Ile
ENST00000402731.5:c.1079C>T	ENSP00000384835.1:p.Thr360Ile
ENST00000403642.5:c.893C>T	ENSP00000384919.1:p.Thr298Ile
ENST00000404276.5:c.1166C>T	ENSP00000385747.1:p.Thr389Ile
ENST00000405598.5:c.1166C>T	ENSP00000386087.1:p.Thr389Ile
ENST00000416671.5:c.*656C>T	ENSP00000402225.1:n.*656C>T
ENST00000417588.5:c.1075C>T	ENSP00000412901.1:n.1075C>T
ENST00000433728.5:c.1104C>T	ENSP00000404400.1:n.1104C>T
ENST00000434810.5:c.397C>T
ENST00000448511.5:c.1056C>T	ENSP00000404567.1:n.1056C>T
ENST00000456369.5:c.263+4035C>T
NM_001005735.1:c.1295C>T	NP_001005735.1:p.Thr432Ile
NM_001257387.1:c.503C>T	NP_001244316.1:p.Thr168Ile
NM_007194.3:c.1166C>T	NP_009125.1:p.Thr389Ile
NM_145862.2:c.1079C>T	NP_665861.1:p.Thr360Ile
XM_006724114.2:c.686C>T	XP_006724177.1:p.Thr229Ile
XM_006724116.2:c.623C>T	XP_006724179.2:p.Thr208Ile
XM_011529839.1:c.1325C>T	XP_011528141.1:p.Thr442Ile
XM_011529840.1:c.1238C>T	XP_011528142.1:p.Thr413Ile
XM_011529841.1:c.1094C>T	XP_011528143.1:p.Thr365Ile
XM_011529842.1:c.995C>T	XP_011528144.1:p.Thr332Ile
XM_011529843.1:c.965C>T	XP_011528145.1:p.Thr322Ile
XM_011529845.1:c.503C>T	XP_011528147.1:p.Thr168Ile
XR_937805.1:n.1325C>T
XR_937806.1:n.1233C>T
NM_001349956.1:c.965C>T	NP_001336885.1:p.Thr322Ile
NM_007194.4:c.1166C>T MANE Select	NP_009125.1:p.Thr389Ile
XM_006724114.3:c.719C>T	XP_006724177.2:p.Thr240Ile
XM_011529839.2:c.1325C>T	XP_011528141.1:p.Thr442Ile
XM_011529840.3:c.1238C>T	XP_011528142.1:p.Thr413Ile
XM_011529842.2:c.995C>T	XP_011528144.1:p.Thr332Ile
XM_011529845.2:c.503C>T	XP_011528147.1:p.Thr168Ile
XM_017028560.1:c.1289C>T	XP_016884049.1:p.Thr430Ile
XM_017028561.2:c.503C>T	XP_016884050.1:p.Thr168Ile
XM_024452148.1:c.1196C>T	XP_024307916.1:p.Thr399Ile
XM_024452149.1:c.1109C>T	XP_024307917.1:p.Thr370Ile
XR_937805.2:n.1336C>T
XR_937806.2:n.1249C>T
NM_001005735.2:c.1295C>T	NP_001005735.1:p.Thr432Ile
NM_001257387.2:c.503C>T	NP_001244316.1:p.Thr168Ile
NM_001349956.2:c.965C>T	NP_001336885.1:p.Thr322Ile