Canonical Allele Identifier: CA411107781

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 920756
• ClinVar RCV Id: RCV001179706 ; RCV002558918
• dbSNP Id: rs587782560
• gnomAD v4: 22-28725124-C-G
• MyVariant Identifiers: chr22:g.29121112C>G (hg19) ; chr22:g.28725124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28725124C>G , CM000684.2:g.28725124C>G	GRCh38
NC_000022.10:g.29121112C>G , CM000684.1:g.29121112C>G	GRCh37
NC_000022.9:g.27451112C>G	NCBI36
NG_008150.1:g.21711G>C
NG_008150.2:g.21743G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.445G>C	ENSP00000396903.2:p.Glu149Gln
ENST00000454252.2:c.*425G>C	ENSP00000387451.2:n.*425G>C
ENST00000711048.1:c.445G>C	ENSP00000518557.1:p.Glu149Gln
ENST00000398017.3:c.445G>C	ENSP00000381099.3:p.Glu149Gln
ENST00000402731.6:c.444+119G>C	ENSP00000384835.2:n.444+119G>C
ENST00000404276.6:c.445G>C MANE Select	ENSP00000385747.1:p.Glu149Gln
ENST00000425190.7:c.-219G>C	ENSP00000390244.2:n.-219G>C
ENST00000649563.1:c.-71-5639G>C	ENSP00000496928.1:n.-71-5639G>C
ENST00000650233.1:c.445G>C	ENSP00000497699.1:p.Glu149Gln
ENST00000650281.1:c.445G>C	ENSP00000497000.1:p.Glu149Gln
ENST00000328354.10:c.445G>C	ENSP00000329178.6:p.Glu149Gln
ENST00000348295.7:c.445G>C	ENSP00000329012.5:p.Glu149Gln
ENST00000382565.5:c.445G>C	ENSP00000372006.2:p.Glu149Gln
ENST00000382580.6:c.574G>C	ENSP00000372023.2:p.Glu192Gln
ENST00000398017.2:c.475G>C	ENSP00000381099.2:p.Glu159Gln
ENST00000402731.5:c.445G>C	ENSP00000384835.1:p.Glu149Gln
ENST00000403642.5:c.320-5639G>C	ENSP00000384919.1:n.320-5639G>C
ENST00000404276.5:c.445G>C	ENSP00000385747.1:p.Glu149Gln
ENST00000405598.5:c.445G>C	ENSP00000386087.1:p.Glu149Gln
ENST00000416671.5:c.445G>C	ENSP00000402225.1:p.Glu149Gln
ENST00000417588.5:c.445G>C	ENSP00000412901.1:p.Glu149Gln
ENST00000425190.6:c.-219G>C	ENSP00000390244.1:n.-219G>C
ENST00000433028.6:c.444+119G>C	ENSP00000403659.1:n.444+119G>C
ENST00000433728.5:c.445G>C	ENSP00000404400.1:p.Glu149Gln
ENST00000439200.5:c.538G>C	ENSP00000408065.1:p.Glu180Gln
ENST00000439346.5:c.7G>C	ENSP00000396903.1:p.Glu3Gln
ENST00000447421.5:c.444+119G>C	ENSP00000397478.2:n.444+119G>C
ENST00000448511.5:c.444+119G>C	ENSP00000404567.1:n.444+119G>C
ENST00000454252.1:c.563G>C	ENSP00000387451.1:n.563G>C
NM_001005735.1:c.574G>C	NP_001005735.1:p.Glu192Gln
NM_001257387.1:c.-333G>C	NP_001244316.1:n.-333G>C
NM_007194.3:c.445G>C	NP_009125.1:p.Glu149Gln
NM_145862.2:c.445G>C	NP_665861.1:p.Glu149Gln
XM_011529839.1:c.604G>C	XP_011528141.1:p.Glu202Gln
XM_011529840.1:c.604G>C	XP_011528142.1:p.Glu202Gln
XM_011529841.1:c.573+119G>C	XP_011528143.1:n.573+119G>C
XM_011529842.1:c.474+119G>C	XP_011528144.1:n.474+119G>C
XM_011529843.1:c.444+119G>C	XP_011528145.1:n.444+119G>C
XM_011529844.1:c.604G>C	XP_011528146.1:p.Glu202Gln
XM_011529845.1:c.-219G>C	XP_011528147.1:n.-219G>C
XR_937805.1:n.666G>C
XR_937806.1:n.661G>C
XR_937807.1:n.661G>C
NM_001349956.1:c.444+119G>C	NP_001336885.1:n.444+119G>C
NM_007194.4:c.445G>C MANE Select	NP_009125.1:p.Glu149Gln
XM_011529839.2:c.604G>C	XP_011528141.1:p.Glu202Gln
XM_011529840.3:c.604G>C	XP_011528142.1:p.Glu202Gln
XM_011529842.2:c.474+119G>C	XP_011528144.1:n.474+119G>C
XM_011529844.2:c.604G>C	XP_011528146.1:p.Glu202Gln
XM_011529845.2:c.-219G>C	XP_011528147.1:n.-219G>C
XM_017028560.1:c.568G>C	XP_016884049.1:p.Glu190Gln
XM_024452148.1:c.475G>C	XP_024307916.1:p.Glu159Gln
XM_024452149.1:c.475G>C	XP_024307917.1:p.Glu159Gln
XR_937805.2:n.677G>C
XR_937806.2:n.677G>C
XR_937807.2:n.677G>C
NM_001005735.2:c.574G>C	NP_001005735.1:p.Glu192Gln
NM_001257387.2:c.-333G>C	NP_001244316.1:n.-333G>C
NM_001349956.2:c.444+119G>C	NP_001336885.1:n.444+119G>C