Canonical Allele Identifier: CA168177

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 142368
• ClinVar RCV Id: RCV000131451 ; RCV000466042
• dbSNP Id: rs149501505
• gnomAD v3: 22-28687962-G-C
• gnomAD v4: 22-28687962-G-C
• MyVariant Identifiers: chr22:g.29083950G>C (hg19) ; chr22:g.28687962G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.*302C>G	ENSP00000518557.1:n.*302C>G
ENST00000402731.6:c.1366C>G	ENSP00000384835.2:p.Arg456Gly
ENST00000404276.6:c.1567C>G MANE Select	ENSP00000385747.1:p.Arg523Gly
ENST00000425190.7:c.904C>G	ENSP00000390244.2:p.Arg302Gly
ENST00000464581.6:c.907C>G	ENSP00000483777.2:p.Arg303Gly
ENST00000648295.1:n.1119C>G
ENST00000649563.1:c.904C>G	ENSP00000496928.1:p.Arg302Gly
ENST00000650281.1:c.1567C>G	ENSP00000497000.1:p.Arg523Gly
ENST00000328354.10:c.1567C>G	ENSP00000329178.6:p.Arg523Gly
ENST00000348295.7:c.1480C>G	ENSP00000329012.5:p.Arg494Gly
ENST00000382580.6:c.1696C>G	ENSP00000372023.2:p.Arg566Gly
ENST00000402731.5:c.1480C>G	ENSP00000384835.1:p.Arg494Gly
ENST00000403642.5:c.1294C>G	ENSP00000384919.1:p.Arg432Gly
ENST00000404276.5:c.1567C>G	ENSP00000385747.1:p.Arg523Gly
ENST00000405598.5:c.1567C>G	ENSP00000386087.1:p.Arg523Gly
ENST00000416671.5:c.*1057C>G	ENSP00000402225.1:n.*1057C>G
ENST00000417588.5:c.1476C>G	ENSP00000412901.1:n.1476C>G
ENST00000433728.5:c.1505C>G	ENSP00000404400.1:n.1505C>G
ENST00000434810.5:c.765C>G
ENST00000448511.5:c.1457C>G	ENSP00000404567.1:n.1457C>G
ENST00000456369.5:c.369C>G
ENST00000472807.1:n.301C>G
NM_001005735.1:c.1696C>G	NP_001005735.1:p.Arg566Gly
NM_001257387.1:c.904C>G	NP_001244316.1:p.Arg302Gly
NM_007194.3:c.1567C>G	NP_009125.1:p.Arg523Gly
NM_145862.2:c.1480C>G	NP_665861.1:p.Arg494Gly
XM_006724114.2:c.1087C>G	XP_006724177.1:p.Arg363Gly
XM_006724116.2:c.1024C>G	XP_006724179.2:p.Arg342Gly
XM_011529839.1:c.1726C>G	XP_011528141.1:p.Arg576Gly
XM_011529840.1:c.1639C>G	XP_011528142.1:p.Arg547Gly
XM_011529841.1:c.1495C>G	XP_011528143.1:p.Arg499Gly
XM_011529842.1:c.1396C>G	XP_011528144.1:p.Arg466Gly
XM_011529843.1:c.1366C>G	XP_011528145.1:p.Arg456Gly
XM_011529845.1:c.904C>G	XP_011528147.1:p.Arg302Gly
XR_937805.1:n.1726C>G
NM_001349956.1:c.1366C>G	NP_001336885.1:p.Arg456Gly
NM_007194.4:c.1567C>G MANE Select	NP_009125.1:p.Arg523Gly
XM_006724114.3:c.1120C>G	XP_006724177.2:p.Arg374Gly
XM_011529839.2:c.1726C>G	XP_011528141.1:p.Arg576Gly
XM_011529840.3:c.1639C>G	XP_011528142.1:p.Arg547Gly
XM_011529842.2:c.1396C>G	XP_011528144.1:p.Arg466Gly
XM_011529845.2:c.904C>G	XP_011528147.1:p.Arg302Gly
XM_017028560.1:c.1690C>G	XP_016884049.1:p.Arg564Gly
XM_017028561.2:c.904C>G	XP_016884050.1:p.Arg302Gly
XM_024452148.1:c.1597C>G	XP_024307916.1:p.Arg533Gly
XM_024452149.1:c.1510C>G	XP_024307917.1:p.Arg504Gly
XR_937805.2:n.1737C>G
NM_001005735.2:c.1696C>G	NP_001005735.1:p.Arg566Gly
NM_001257387.2:c.904C>G	NP_001244316.1:p.Arg302Gly
NM_001349956.2:c.1366C>G	NP_001336885.1:p.Arg456Gly