Canonical Allele Identifier: CA294375

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 142352
• ClinVar RCV Id: RCV000131434 ; RCV000212411 ; RCV000515447 ; RCV000545158 ; RCV001258067 ; RCV003492621
• dbSNP Id: rs587782401
• ExAC: 22:29130389 A / T
• gnomAD v2: 22-29130389-A-T
• gnomAD v3: 22-28734401-A-T
• gnomAD v4: 22-28734401-A-T
• MyVariant Identifiers: chr22:g.29130389A>T (hg19) ; chr22:g.28734401A>T (hg38)
• PubMed: PMID:23960188 ; PMID:26681312 ; PMID:27696107 ; PMID:27751358 ; PMID:28608266

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28734401A>T , CM000684.2:g.28734401A>T	GRCh38
NC_000022.10:g.29130389A>T , CM000684.1:g.29130389A>T	GRCh37
NC_000022.9:g.27460389A>T	NCBI36
NG_008150.1:g.12434T>A
NG_008150.2:g.12466T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.319+2T>A	ENSP00000396903.2:n.319+2T>A
ENST00000454252.2:c.319+2T>A	ENSP00000387451.2:n.319+2T>A
ENST00000711048.1:c.319+2T>A	ENSP00000518557.1:n.319+2T>A
ENST00000398017.3:c.319+2T>A	ENSP00000381099.3:n.319+2T>A
ENST00000402731.6:c.319+2T>A	ENSP00000384835.2:n.319+2T>A
ENST00000404276.6:c.319+2T>A MANE Select	ENSP00000385747.1:n.319+2T>A
ENST00000425190.7:c.-345+7368T>A	ENSP00000390244.2:n.-345+7368T>A
ENST00000649563.1:c.-72+7368T>A	ENSP00000496928.1:n.-72+7368T>A
ENST00000650233.1:c.319+2T>A	ENSP00000497699.1:n.319+2T>A
ENST00000650281.1:c.319+2T>A	ENSP00000497000.1:n.319+2T>A
ENST00000328354.10:c.319+2T>A	ENSP00000329178.6:n.319+2T>A
ENST00000348295.7:c.319+2T>A	ENSP00000329012.5:n.319+2T>A
ENST00000382565.5:c.319+2T>A	ENSP00000372006.2:n.319+2T>A
ENST00000382580.6:c.319+2T>A	ENSP00000372023.2:n.319+2T>A
ENST00000398017.2:c.349+2T>A	ENSP00000381099.2:n.349+2T>A
ENST00000402731.5:c.319+2T>A	ENSP00000384835.1:n.319+2T>A
ENST00000403642.5:c.319+2T>A	ENSP00000384919.1:n.319+2T>A
ENST00000404276.5:c.319+2T>A	ENSP00000385747.1:n.319+2T>A
ENST00000405598.5:c.319+2T>A	ENSP00000386087.1:n.319+2T>A
ENST00000416671.5:c.319+2T>A	ENSP00000402225.1:n.319+2T>A
ENST00000417588.5:c.319+2T>A	ENSP00000412901.1:n.319+2T>A
ENST00000425190.6:c.-345+7368T>A	ENSP00000390244.1:n.-345+7368T>A
ENST00000433028.6:c.319+2T>A	ENSP00000403659.1:n.319+2T>A
ENST00000433728.5:c.319+2T>A	ENSP00000404400.1:n.319+2T>A
ENST00000439200.5:c.319+2T>A	ENSP00000408065.1:n.319+2T>A
ENST00000447421.5:c.319+2T>A	ENSP00000397478.2:n.319+2T>A
ENST00000448511.5:c.319+2T>A	ENSP00000404567.1:n.319+2T>A
NM_001005735.1:c.319+2T>A	NP_001005735.1:n.319+2T>A
NM_001257387.1:c.-459+2T>A	NP_001244316.1:n.-459+2T>A
NM_007194.3:c.319+2T>A	NP_009125.1:n.319+2T>A
NM_145862.2:c.319+2T>A	NP_665861.1:n.319+2T>A
XM_011529839.1:c.349+2T>A	XP_011528141.1:n.349+2T>A
XM_011529840.1:c.349+2T>A	XP_011528142.1:n.349+2T>A
XM_011529841.1:c.319+2T>A	XP_011528143.1:n.319+2T>A
XM_011529842.1:c.349+2T>A	XP_011528144.1:n.349+2T>A
XM_011529843.1:c.319+2T>A	XP_011528145.1:n.319+2T>A
XM_011529844.1:c.349+2T>A	XP_011528146.1:n.349+2T>A
XM_011529845.1:c.-345+7368T>A	XP_011528147.1:n.-345+7368T>A
XR_937805.1:n.411+2T>A
XR_937806.1:n.406+2T>A
XR_937807.1:n.406+2T>A
NM_001349956.1:c.319+2T>A	NP_001336885.1:n.319+2T>A
NM_007194.4:c.319+2T>A MANE Select	NP_009125.1:n.319+2T>A
XM_011529839.2:c.349+2T>A	XP_011528141.1:n.349+2T>A
XM_011529840.3:c.349+2T>A	XP_011528142.1:n.349+2T>A
XM_011529842.2:c.349+2T>A	XP_011528144.1:n.349+2T>A
XM_011529844.2:c.349+2T>A	XP_011528146.1:n.349+2T>A
XM_011529845.2:c.-345+7368T>A	XP_011528147.1:n.-345+7368T>A
XM_017028560.1:c.349+2T>A	XP_016884049.1:n.349+2T>A
XM_024452148.1:c.349+2T>A	XP_024307916.1:n.349+2T>A
XM_024452149.1:c.349+2T>A	XP_024307917.1:n.349+2T>A
XR_937805.2:n.422+2T>A
XR_937806.2:n.422+2T>A
XR_937807.2:n.422+2T>A
NM_001005735.2:c.319+2T>A	NP_001005735.1:n.319+2T>A
NM_001257387.2:c.-459+2T>A	NP_001244316.1:n.-459+2T>A
NM_001349956.2:c.319+2T>A	NP_001336885.1:n.319+2T>A