Canonical Allele Identifier: CA168192

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 142376
• ClinVar RCV Id: RCV000131462 ; RCV000226721 ; RCV000486217 ; RCV001798451
• dbSNP Id: rs587782416
• ExAC: 22:29095885 T / C
• gnomAD v2: 22-29095885-T-C
• gnomAD v3: 22-28699897-T-C
• gnomAD v4: 22-28699897-T-C
• MyVariant Identifiers: chr22:g.29095885T>C (hg19) ; chr22:g.29095885_29095892delinsCATTCCCC (hg19) ; chr22:g.28699897T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699897T>C , CM000684.2:g.28699897T>C	GRCh38
NC_000022.10:g.29095885T>C , CM000684.1:g.29095885T>C	GRCh37
NC_000022.9:g.27425885T>C	NCBI36
NG_008150.1:g.46938A>G
NG_008150.2:g.46970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.858A>G	ENSP00000396903.2:n.858A>G
ENST00000711048.1:c.949A>G	ENSP00000518557.1:p.Lys317Glu
ENST00000402731.6:c.748A>G	ENSP00000384835.2:p.Lys250Glu
ENST00000404276.6:c.949A>G MANE Select	ENSP00000385747.1:p.Lys317Glu
ENST00000425190.7:c.286A>G	ENSP00000390244.2:p.Lys96Glu
ENST00000464581.6:c.289A>G	ENSP00000483777.2:p.Lys97Glu
ENST00000648295.1:n.501A>G
ENST00000649563.1:c.286A>G	ENSP00000496928.1:p.Lys96Glu
ENST00000650281.1:c.949A>G	ENSP00000497000.1:p.Lys317Glu
ENST00000328354.10:c.949A>G	ENSP00000329178.6:p.Lys317Glu
ENST00000348295.7:c.949A>G	ENSP00000329012.5:p.Lys317Glu
ENST00000382580.6:c.1078A>G	ENSP00000372023.2:p.Lys360Glu
ENST00000402731.5:c.949A>G	ENSP00000384835.1:p.Lys317Glu
ENST00000403642.5:c.676A>G	ENSP00000384919.1:p.Lys226Glu
ENST00000404276.5:c.949A>G	ENSP00000385747.1:p.Lys317Glu
ENST00000405598.5:c.949A>G	ENSP00000386087.1:p.Lys317Glu
ENST00000416671.5:c.*439A>G	ENSP00000402225.1:n.*439A>G
ENST00000417588.5:c.858A>G	ENSP00000412901.1:n.858A>G
ENST00000425190.6:c.286A>G	ENSP00000390244.1:p.Lys96Glu
ENST00000433028.6:c.*674A>G	ENSP00000403659.1:n.*674A>G
ENST00000433728.5:c.887A>G	ENSP00000404400.1:n.887A>G
ENST00000434810.5:c.180A>G
ENST00000439346.5:c.420A>G	ENSP00000396903.1:n.420A>G
ENST00000447421.5:c.748A>G	ENSP00000397478.2:p.Lys250Glu
ENST00000448511.5:c.839A>G	ENSP00000404567.1:n.839A>G
ENST00000456369.5:c.204A>G
ENST00000464581.5:c.289A>G	ENSP00000483777.1:p.Lys97Glu
ENST00000491919.5:n.506A>G
NM_001005735.1:c.1078A>G	NP_001005735.1:p.Lys360Glu
NM_001257387.1:c.286A>G	NP_001244316.1:p.Lys96Glu
NM_007194.3:c.949A>G	NP_009125.1:p.Lys317Glu
NM_145862.2:c.949A>G	NP_665861.1:p.Lys317Glu
XM_006724114.2:c.469A>G	XP_006724177.1:p.Lys157Glu
XM_006724116.2:c.406A>G	XP_006724179.2:p.Lys136Glu
XM_011529839.1:c.1108A>G	XP_011528141.1:p.Lys370Glu
XM_011529840.1:c.1108A>G	XP_011528142.1:p.Lys370Glu
XM_011529841.1:c.877A>G	XP_011528143.1:p.Lys293Glu
XM_011529842.1:c.778A>G	XP_011528144.1:p.Lys260Glu
XM_011529843.1:c.748A>G	XP_011528145.1:p.Lys250Glu
XM_011529844.1:c.1108A>G	XP_011528146.1:p.Lys370Glu
XM_011529845.1:c.286A>G	XP_011528147.1:p.Lys96Glu
XR_937805.1:n.1108A>G
XR_937806.1:n.1103A>G
XR_937807.1:n.1103A>G
NM_001349956.1:c.748A>G	NP_001336885.1:p.Lys250Glu
NM_007194.4:c.949A>G MANE Select	NP_009125.1:p.Lys317Glu
XM_006724114.3:c.502A>G	XP_006724177.2:p.Lys168Glu
XM_011529839.2:c.1108A>G	XP_011528141.1:p.Lys370Glu
XM_011529840.3:c.1108A>G	XP_011528142.1:p.Lys370Glu
XM_011529842.2:c.778A>G	XP_011528144.1:p.Lys260Glu
XM_011529844.2:c.1108A>G	XP_011528146.1:p.Lys370Glu
XM_011529845.2:c.286A>G	XP_011528147.1:p.Lys96Glu
XM_017028560.1:c.1072A>G	XP_016884049.1:p.Lys358Glu
XM_017028561.2:c.286A>G	XP_016884050.1:p.Lys96Glu
XM_024452148.1:c.979A>G	XP_024307916.1:p.Lys327Glu
XM_024452149.1:c.979A>G	XP_024307917.1:p.Lys327Glu
XR_937805.2:n.1119A>G
XR_937806.2:n.1119A>G
XR_937807.2:n.1119A>G
NM_001005735.2:c.1078A>G	NP_001005735.1:p.Lys360Glu
NM_001257387.2:c.286A>G	NP_001244316.1:p.Lys96Glu
NM_001349956.2:c.748A>G	NP_001336885.1:p.Lys250Glu