Canonical Allele Identifier: CA288305

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 128073
• ClinVar RCV Id: RCV001798356
• dbSNP Id: rs368570187
• ExAC: 22:29121265 C / T
• gnomAD v2: 22-29121265-C-T
• gnomAD v3: 22-28725277-C-T
• gnomAD v4: 22-28725277-C-T
• MyVariant Identifiers: chr22:g.29121265C>T (hg19) ; chr22:g.28725277C>T (hg38)
• PubMed: PMID:12454775 ; PMID:15239132 ; PMID:16982735 ; PMID:17721994 ; PMID:21244692 ; PMID:22114986 ; PMID:22419737 ; PMID:25186627 ; PMID:25318351 ; PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28725277C>T , CM000684.2:g.28725277C>T	GRCh38
NC_000022.10:g.29121265C>T , CM000684.1:g.29121265C>T	GRCh37
NC_000022.9:g.27451265C>T	NCBI36
NG_008150.1:g.21558G>A
NG_008150.2:g.21590G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.410G>A	ENSP00000396903.2:p.Arg137Gln
ENST00000454252.2:c.*390G>A	ENSP00000387451.2:n.*390G>A
ENST00000711048.1:c.410G>A	ENSP00000518557.1:p.Arg137Gln
ENST00000398017.3:c.410G>A	ENSP00000381099.3:p.Arg137Gln
ENST00000402731.6:c.410G>A	ENSP00000384835.2:p.Arg137Gln
ENST00000404276.6:c.410G>A MANE Select	ENSP00000385747.1:p.Arg137Gln
ENST00000425190.7:c.-254G>A	ENSP00000390244.2:n.-254G>A
ENST00000649563.1:c.-71-5792G>A	ENSP00000496928.1:n.-71-5792G>A
ENST00000650233.1:c.410G>A	ENSP00000497699.1:p.Arg137Gln
ENST00000650281.1:c.410G>A	ENSP00000497000.1:p.Arg137Gln
ENST00000328354.10:c.410G>A	ENSP00000329178.6:p.Arg137Gln
ENST00000348295.7:c.410G>A	ENSP00000329012.5:p.Arg137Gln
ENST00000382565.5:c.410G>A	ENSP00000372006.2:p.Arg137Gln
ENST00000382580.6:c.539G>A	ENSP00000372023.2:p.Arg180Gln
ENST00000398017.2:c.440G>A	ENSP00000381099.2:p.Arg147Gln
ENST00000402731.5:c.410G>A	ENSP00000384835.1:p.Arg137Gln
ENST00000403642.5:c.320-5792G>A	ENSP00000384919.1:n.320-5792G>A
ENST00000404276.5:c.410G>A	ENSP00000385747.1:p.Arg137Gln
ENST00000405598.5:c.410G>A	ENSP00000386087.1:p.Arg137Gln
ENST00000416671.5:c.410G>A	ENSP00000402225.1:p.Arg137Gln
ENST00000417588.5:c.410G>A	ENSP00000412901.1:p.Arg137Gln
ENST00000425190.6:c.-254G>A	ENSP00000390244.1:n.-254G>A
ENST00000433028.6:c.410G>A	ENSP00000403659.1:p.Arg137Gln
ENST00000433728.5:c.410G>A	ENSP00000404400.1:p.Arg137Gln
ENST00000439200.5:c.503G>A	ENSP00000408065.1:p.Arg168Gln
ENST00000447421.5:c.410G>A	ENSP00000397478.2:p.Arg137Gln
ENST00000448511.5:c.410G>A	ENSP00000404567.1:p.Arg137Gln
ENST00000454252.1:c.528G>A	ENSP00000387451.1:n.528G>A
NM_001005735.1:c.539G>A	NP_001005735.1:p.Arg180Gln
NM_001257387.1:c.-368G>A	NP_001244316.1:n.-368G>A
NM_007194.3:c.410G>A	NP_009125.1:p.Arg137Gln
NM_145862.2:c.410G>A	NP_665861.1:p.Arg137Gln
XM_011529839.1:c.569G>A	XP_011528141.1:p.Arg190Gln
XM_011529840.1:c.569G>A	XP_011528142.1:p.Arg190Gln
XM_011529841.1:c.539G>A	XP_011528143.1:p.Arg180Gln
XM_011529842.1:c.440G>A	XP_011528144.1:p.Arg147Gln
XM_011529843.1:c.410G>A	XP_011528145.1:p.Arg137Gln
XM_011529844.1:c.569G>A	XP_011528146.1:p.Arg190Gln
XM_011529845.1:c.-254G>A	XP_011528147.1:n.-254G>A
XR_937805.1:n.631G>A
XR_937806.1:n.626G>A
XR_937807.1:n.626G>A
NM_001349956.1:c.410G>A	NP_001336885.1:p.Arg137Gln
NM_007194.4:c.410G>A MANE Select	NP_009125.1:p.Arg137Gln
XM_011529839.2:c.569G>A	XP_011528141.1:p.Arg190Gln
XM_011529840.3:c.569G>A	XP_011528142.1:p.Arg190Gln
XM_011529842.2:c.440G>A	XP_011528144.1:p.Arg147Gln
XM_011529844.2:c.569G>A	XP_011528146.1:p.Arg190Gln
XM_011529845.2:c.-254G>A	XP_011528147.1:n.-254G>A
XM_017028560.1:c.533G>A	XP_016884049.1:p.Arg178Gln
XM_024452148.1:c.440G>A	XP_024307916.1:p.Arg147Gln
XM_024452149.1:c.440G>A	XP_024307917.1:p.Arg147Gln
XR_937805.2:n.642G>A
XR_937806.2:n.642G>A
XR_937807.2:n.642G>A
NM_001005735.2:c.539G>A	NP_001005735.1:p.Arg180Gln
NM_001257387.2:c.-368G>A	NP_001244316.1:n.-368G>A
NM_001349956.2:c.410G>A	NP_001336885.1:p.Arg137Gln