Canonical Allele Identifier: CA10167848

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 496346
• ClinVar RCV Id: RCV000590374 ; RCV000635676 ; RCV002257851
• dbSNP Id: rs764394796
• ExAC: 22:29105989 C / T
• gnomAD v2: 22-29105989-C-T
• gnomAD v3: 22-28710001-C-T
• gnomAD v4: 22-28710001-C-T
• MyVariant Identifiers: chr22:g.29105989C>T (hg19) ; chr22:g.28710001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28710001C>T , CM000684.2:g.28710001C>T	GRCh38
NC_000022.10:g.29105989C>T , CM000684.1:g.29105989C>T	GRCh37
NC_000022.9:g.27435989C>T	NCBI36
NG_008150.1:g.36834G>A
NG_008150.2:g.36866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.755+5G>A	ENSP00000396903.2:n.755+5G>A
ENST00000711048.1:c.846+5G>A	ENSP00000518557.1:n.846+5G>A
ENST00000402731.6:c.645+5G>A	ENSP00000384835.2:n.645+5G>A
ENST00000404276.6:c.846+5G>A MANE Select	ENSP00000385747.1:n.846+5G>A
ENST00000425190.7:c.183+5G>A	ENSP00000390244.2:n.183+5G>A
ENST00000464581.6:c.186+5G>A	ENSP00000483777.2:n.186+5G>A
ENST00000648295.1:n.398+5G>A
ENST00000649563.1:c.183+5G>A	ENSP00000496928.1:n.183+5G>A
ENST00000650281.1:c.846+5G>A	ENSP00000497000.1:n.846+5G>A
ENST00000328354.10:c.846+5G>A	ENSP00000329178.6:n.846+5G>A
ENST00000348295.7:c.846+5G>A	ENSP00000329012.5:n.846+5G>A
ENST00000382580.6:c.975+5G>A	ENSP00000372023.2:n.975+5G>A
ENST00000402731.5:c.846+5G>A	ENSP00000384835.1:n.846+5G>A
ENST00000403642.5:c.573+5G>A	ENSP00000384919.1:n.573+5G>A
ENST00000404276.5:c.846+5G>A	ENSP00000385747.1:n.846+5G>A
ENST00000405598.5:c.846+5G>A	ENSP00000386087.1:n.846+5G>A
ENST00000416671.5:c.*336+5G>A	ENSP00000402225.1:n.*336+5G>A
ENST00000417588.5:c.755+5G>A	ENSP00000412901.1:n.755+5G>A
ENST00000425190.6:c.183+5G>A	ENSP00000390244.1:n.183+5G>A
ENST00000433028.6:c.*571+5G>A	ENSP00000403659.1:n.*571+5G>A
ENST00000433728.5:c.846+5G>A	ENSP00000404400.1:n.846+5G>A
ENST00000434810.5:c.77+5G>A
ENST00000439346.5:c.317+5G>A	ENSP00000396903.1:n.317+5G>A
ENST00000447421.5:c.645+5G>A	ENSP00000397478.2:n.645+5G>A
ENST00000448511.5:c.736+5G>A	ENSP00000404567.1:n.736+5G>A
ENST00000456369.5:c.101+5G>A
ENST00000464581.5:c.186+5G>A	ENSP00000483777.1:n.186+5G>A
ENST00000491919.5:n.403+5G>A
NM_001005735.1:c.975+5G>A	NP_001005735.1:n.975+5G>A
NM_001257387.1:c.183+5G>A	NP_001244316.1:n.183+5G>A
NM_007194.3:c.846+5G>A	NP_009125.1:n.846+5G>A
NM_145862.2:c.846+5G>A	NP_665861.1:n.846+5G>A
XM_006724114.2:c.366+5G>A	XP_006724177.1:n.366+5G>A
XM_006724116.2:c.303+5G>A	XP_006724179.2:n.303+5G>A
XM_011529839.1:c.1005+5G>A	XP_011528141.1:n.1005+5G>A
XM_011529840.1:c.1005+5G>A	XP_011528142.1:n.1005+5G>A
XM_011529841.1:c.774+5G>A	XP_011528143.1:n.774+5G>A
XM_011529842.1:c.675+5G>A	XP_011528144.1:n.675+5G>A
XM_011529843.1:c.645+5G>A	XP_011528145.1:n.645+5G>A
XM_011529844.1:c.1005+5G>A	XP_011528146.1:n.1005+5G>A
XM_011529845.1:c.183+5G>A	XP_011528147.1:n.183+5G>A
XR_937805.1:n.1067+5G>A
XR_937806.1:n.1062+5G>A
XR_937807.1:n.1062+5G>A
NM_001349956.1:c.645+5G>A	NP_001336885.1:n.645+5G>A
NM_007194.4:c.846+5G>A MANE Select	NP_009125.1:n.846+5G>A
XM_006724114.3:c.399+5G>A	XP_006724177.2:n.399+5G>A
XM_011529839.2:c.1005+5G>A	XP_011528141.1:n.1005+5G>A
XM_011529840.3:c.1005+5G>A	XP_011528142.1:n.1005+5G>A
XM_011529842.2:c.675+5G>A	XP_011528144.1:n.675+5G>A
XM_011529844.2:c.1005+5G>A	XP_011528146.1:n.1005+5G>A
XM_011529845.2:c.183+5G>A	XP_011528147.1:n.183+5G>A
XM_017028560.1:c.969+5G>A	XP_016884049.1:n.969+5G>A
XM_017028561.2:c.183+5G>A	XP_016884050.1:n.183+5G>A
XM_024452148.1:c.876+5G>A	XP_024307916.1:n.876+5G>A
XM_024452149.1:c.876+5G>A	XP_024307917.1:n.876+5G>A
XR_937805.2:n.1078+5G>A
XR_937806.2:n.1078+5G>A
XR_937807.2:n.1078+5G>A
NM_001005735.2:c.975+5G>A	NP_001005735.1:n.975+5G>A
NM_001257387.2:c.183+5G>A	NP_001244316.1:n.183+5G>A
NM_001349956.2:c.645+5G>A	NP_001336885.1:n.645+5G>A