Canonical Allele Identifier: CA117644

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 5600
• ClinVar RCV Id: RCV001789748 ; RCV001818140 ; RCV002476934 ; RCV003333689 ; RCV003894793
• dbSNP Id: rs121908702
• ExAC: 22:29107974 C / T
• gnomAD v2: 22-29107974-C-T
• gnomAD v3: 22-28711986-C-T
• gnomAD v4: 22-28711986-C-T
• MyVariant Identifiers: chr22:g.29107974C>T (hg19) ; chr22:g.28711986C>T (hg38)
• PubMed: PMID:12533788 ; PMID:16835864 ; PMID:16941491 ; PMID:21244692 ; PMID:22419737 ; PMID:23298314 ; PMID:25186627 ; PMID:25318351 ; PMID:26506619 ; PMID:26976419 ; PMID:27595995

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28711986C>T , CM000684.2:g.28711986C>T	GRCh38
NC_000022.10:g.29107974C>T , CM000684.1:g.29107974C>T	GRCh37
NC_000022.9:g.27437974C>T	NCBI36
NG_008150.1:g.34849G>A
NG_008150.2:g.34881G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.624G>A	ENSP00000396903.2:n.624G>A
ENST00000711048.1:c.715G>A	ENSP00000518557.1:p.Glu239Lys
ENST00000402731.6:c.514G>A	ENSP00000384835.2:p.Glu172Lys
ENST00000404276.6:c.715G>A MANE Select	ENSP00000385747.1:p.Glu239Lys
ENST00000425190.7:c.52G>A	ENSP00000390244.2:p.Glu18Lys
ENST00000464581.6:c.55G>A	ENSP00000483777.2:p.Glu19Lys
ENST00000648295.1:n.267G>A
ENST00000649563.1:c.52G>A	ENSP00000496928.1:p.Glu18Lys
ENST00000650281.1:c.715G>A	ENSP00000497000.1:p.Glu239Lys
ENST00000328354.10:c.715G>A	ENSP00000329178.6:p.Glu239Lys
ENST00000348295.7:c.715G>A	ENSP00000329012.5:p.Glu239Lys
ENST00000382580.6:c.844G>A	ENSP00000372023.2:p.Glu282Lys
ENST00000402731.5:c.715G>A	ENSP00000384835.1:p.Glu239Lys
ENST00000403642.5:c.442G>A	ENSP00000384919.1:p.Glu148Lys
ENST00000404276.5:c.715G>A	ENSP00000385747.1:p.Glu239Lys
ENST00000405598.5:c.715G>A	ENSP00000386087.1:p.Glu239Lys
ENST00000416671.5:c.*205G>A	ENSP00000402225.1:n.*205G>A
ENST00000417588.5:c.624G>A	ENSP00000412901.1:n.624G>A
ENST00000425190.6:c.52G>A	ENSP00000390244.1:p.Glu18Lys
ENST00000433028.6:c.*440G>A	ENSP00000403659.1:n.*440G>A
ENST00000433728.5:c.715G>A	ENSP00000404400.1:p.Glu239Lys
ENST00000439200.5:c.808G>A	ENSP00000408065.1:p.Glu270Lys
ENST00000439346.5:c.186G>A	ENSP00000396903.1:n.186G>A
ENST00000447421.5:c.514G>A	ENSP00000397478.2:p.Glu172Lys
ENST00000448511.5:c.605G>A	ENSP00000404567.1:n.605G>A
ENST00000464581.5:c.55G>A	ENSP00000483777.1:p.Glu19Lys
ENST00000491919.5:n.272G>A
NM_001005735.1:c.844G>A	NP_001005735.1:p.Glu282Lys
NM_001257387.1:c.52G>A	NP_001244316.1:p.Glu18Lys
NM_007194.3:c.715G>A	NP_009125.1:p.Glu239Lys
NM_145862.2:c.715G>A	NP_665861.1:p.Glu239Lys
XM_006724114.2:c.235G>A	XP_006724177.1:p.Glu79Lys
XM_006724116.2:c.172G>A	XP_006724179.2:p.Glu58Lys
XM_011529839.1:c.874G>A	XP_011528141.1:p.Glu292Lys
XM_011529840.1:c.874G>A	XP_011528142.1:p.Glu292Lys
XM_011529841.1:c.643G>A	XP_011528143.1:p.Glu215Lys
XM_011529842.1:c.544G>A	XP_011528144.1:p.Glu182Lys
XM_011529843.1:c.514G>A	XP_011528145.1:p.Glu172Lys
XM_011529844.1:c.874G>A	XP_011528146.1:p.Glu292Lys
XM_011529845.1:c.52G>A	XP_011528147.1:p.Glu18Lys
XR_937805.1:n.936G>A
XR_937806.1:n.931G>A
XR_937807.1:n.931G>A
NM_001349956.1:c.514G>A	NP_001336885.1:p.Glu172Lys
NM_007194.4:c.715G>A MANE Select	NP_009125.1:p.Glu239Lys
XM_006724114.3:c.268G>A	XP_006724177.2:p.Glu90Lys
XM_011529839.2:c.874G>A	XP_011528141.1:p.Glu292Lys
XM_011529840.3:c.874G>A	XP_011528142.1:p.Glu292Lys
XM_011529842.2:c.544G>A	XP_011528144.1:p.Glu182Lys
XM_011529844.2:c.874G>A	XP_011528146.1:p.Glu292Lys
XM_011529845.2:c.52G>A	XP_011528147.1:p.Glu18Lys
XM_017028560.1:c.838G>A	XP_016884049.1:p.Glu280Lys
XM_017028561.2:c.52G>A	XP_016884050.1:p.Glu18Lys
XM_024452148.1:c.745G>A	XP_024307916.1:p.Glu249Lys
XM_024452149.1:c.745G>A	XP_024307917.1:p.Glu249Lys
XR_937805.2:n.947G>A
XR_937806.2:n.947G>A
XR_937807.2:n.947G>A
NM_001005735.2:c.844G>A	NP_001005735.1:p.Glu282Lys
NM_001257387.2:c.52G>A	NP_001244316.1:p.Glu18Lys
NM_001349956.2:c.514G>A	NP_001336885.1:p.Glu172Lys