Canonical Allele Identifier: CA16621062

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 420003
• ClinVar RCV Id: RCV000485499 ; RCV000569568 ; RCV000663289 ; RCV000765618
• dbSNP Id: rs750984976
• gnomAD v4: 22-28699879-T-G
• MyVariant Identifiers: chr22:g.29095867T>G (hg19) ; chr22:g.28699879T>G (hg38)
• PubMed: PMID:12533788 ; PMID:16835864 ; PMID:16941491 ; PMID:21244692 ; PMID:22419737

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699879T>G , CM000684.2:g.28699879T>G	GRCh38
NC_000022.10:g.29095867T>G , CM000684.1:g.29095867T>G	GRCh37
NC_000022.9:g.27425867T>G	NCBI36
NG_008150.1:g.46956A>C
NG_008150.2:g.46988A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.876A>C	ENSP00000396903.2:n.876A>C
ENST00000711048.1:c.967A>C	ENSP00000518557.1:p.Thr323Pro
ENST00000402731.6:c.766A>C	ENSP00000384835.2:p.Thr256Pro
ENST00000404276.6:c.967A>C MANE Select	ENSP00000385747.1:p.Thr323Pro
ENST00000425190.7:c.304A>C	ENSP00000390244.2:p.Thr102Pro
ENST00000464581.6:c.307A>C	ENSP00000483777.2:p.Thr103Pro
ENST00000648295.1:n.519A>C
ENST00000649563.1:c.304A>C	ENSP00000496928.1:p.Thr102Pro
ENST00000650281.1:c.967A>C	ENSP00000497000.1:p.Thr323Pro
ENST00000328354.10:c.967A>C	ENSP00000329178.6:p.Thr323Pro
ENST00000348295.7:c.967A>C	ENSP00000329012.5:p.Thr323Pro
ENST00000382580.6:c.1096A>C	ENSP00000372023.2:p.Thr366Pro
ENST00000402731.5:c.967A>C	ENSP00000384835.1:p.Thr323Pro
ENST00000403642.5:c.694A>C	ENSP00000384919.1:p.Thr232Pro
ENST00000404276.5:c.967A>C	ENSP00000385747.1:p.Thr323Pro
ENST00000405598.5:c.967A>C	ENSP00000386087.1:p.Thr323Pro
ENST00000416671.5:c.*457A>C	ENSP00000402225.1:n.*457A>C
ENST00000417588.5:c.876A>C	ENSP00000412901.1:n.876A>C
ENST00000425190.6:c.304A>C	ENSP00000390244.1:p.Thr102Pro
ENST00000433028.6:c.*692A>C	ENSP00000403659.1:n.*692A>C
ENST00000433728.5:c.905A>C	ENSP00000404400.1:n.905A>C
ENST00000434810.5:c.198A>C
ENST00000439346.5:c.438A>C	ENSP00000396903.1:n.438A>C
ENST00000447421.5:c.766A>C	ENSP00000397478.2:p.Thr256Pro
ENST00000448511.5:c.857A>C	ENSP00000404567.1:n.857A>C
ENST00000456369.5:c.222A>C
ENST00000464581.5:c.307A>C	ENSP00000483777.1:p.Thr103Pro
ENST00000491919.5:n.524A>C
NM_001005735.1:c.1096A>C	NP_001005735.1:p.Thr366Pro
NM_001257387.1:c.304A>C	NP_001244316.1:p.Thr102Pro
NM_007194.3:c.967A>C	NP_009125.1:p.Thr323Pro
NM_145862.2:c.967A>C	NP_665861.1:p.Thr323Pro
XM_006724114.2:c.487A>C	XP_006724177.1:p.Thr163Pro
XM_006724116.2:c.424A>C	XP_006724179.2:p.Thr142Pro
XM_011529839.1:c.1126A>C	XP_011528141.1:p.Thr376Pro
XM_011529840.1:c.1126A>C	XP_011528142.1:p.Thr376Pro
XM_011529841.1:c.895A>C	XP_011528143.1:p.Thr299Pro
XM_011529842.1:c.796A>C	XP_011528144.1:p.Thr266Pro
XM_011529843.1:c.766A>C	XP_011528145.1:p.Thr256Pro
XM_011529844.1:c.1126A>C	XP_011528146.1:p.Thr376Pro
XM_011529845.1:c.304A>C	XP_011528147.1:p.Thr102Pro
XR_937805.1:n.1126A>C
XR_937806.1:n.1121A>C
XR_937807.1:n.1121A>C
NM_001349956.1:c.766A>C	NP_001336885.1:p.Thr256Pro
NM_007194.4:c.967A>C MANE Select	NP_009125.1:p.Thr323Pro
XM_006724114.3:c.520A>C	XP_006724177.2:p.Thr174Pro
XM_011529839.2:c.1126A>C	XP_011528141.1:p.Thr376Pro
XM_011529840.3:c.1126A>C	XP_011528142.1:p.Thr376Pro
XM_011529842.2:c.796A>C	XP_011528144.1:p.Thr266Pro
XM_011529844.2:c.1126A>C	XP_011528146.1:p.Thr376Pro
XM_011529845.2:c.304A>C	XP_011528147.1:p.Thr102Pro
XM_017028560.1:c.1090A>C	XP_016884049.1:p.Thr364Pro
XM_017028561.2:c.304A>C	XP_016884050.1:p.Thr102Pro
XM_024452148.1:c.997A>C	XP_024307916.1:p.Thr333Pro
XM_024452149.1:c.997A>C	XP_024307917.1:p.Thr333Pro
XR_937805.2:n.1137A>C
XR_937806.2:n.1137A>C
XR_937807.2:n.1137A>C
NM_001005735.2:c.1096A>C	NP_001005735.1:p.Thr366Pro
NM_001257387.2:c.304A>C	NP_001244316.1:p.Thr102Pro
NM_001349956.2:c.766A>C	NP_001336885.1:p.Thr256Pro