Canonical Allele Identifier: CA10581050

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 230649
• ClinVar RCV Id: RCV000214852 ; RCV000688848 ; RCV002262809
• dbSNP Id: rs202089930
• gnomAD v4: 22-28695821-G-T
• MyVariant Identifiers: chr22:g.29091809G>T (hg19) ; chr22:g.28695821G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695821G>T , CM000684.2:g.28695821G>T	GRCh38
NC_000022.10:g.29091809G>T , CM000684.1:g.29091809G>T	GRCh37
NC_000022.9:g.27421809G>T	NCBI36
NG_008150.1:g.51014C>A
NG_008150.2:g.51046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-579C>A	ENSP00000518557.1:n.1009-579C>A
ENST00000402731.6:c.947C>A	ENSP00000384835.2:p.Thr316Asn
ENST00000404276.6:c.1148C>A MANE Select	ENSP00000385747.1:p.Thr383Asn
ENST00000425190.7:c.485C>A	ENSP00000390244.2:p.Thr162Asn
ENST00000464581.6:c.488C>A	ENSP00000483777.2:p.Thr163Asn
ENST00000648295.1:n.700C>A
ENST00000649563.1:c.485C>A	ENSP00000496928.1:p.Thr162Asn
ENST00000650281.1:c.1148C>A	ENSP00000497000.1:p.Thr383Asn
ENST00000328354.10:c.1148C>A	ENSP00000329178.6:p.Thr383Asn
ENST00000348295.7:c.1061C>A	ENSP00000329012.5:p.Thr354Asn
ENST00000382580.6:c.1277C>A	ENSP00000372023.2:p.Thr426Asn
ENST00000402731.5:c.1061C>A	ENSP00000384835.1:p.Thr354Asn
ENST00000403642.5:c.875C>A	ENSP00000384919.1:p.Thr292Asn
ENST00000404276.5:c.1148C>A	ENSP00000385747.1:p.Thr383Asn
ENST00000405598.5:c.1148C>A	ENSP00000386087.1:p.Thr383Asn
ENST00000416671.5:c.*638C>A	ENSP00000402225.1:n.*638C>A
ENST00000417588.5:c.1057C>A	ENSP00000412901.1:n.1057C>A
ENST00000433728.5:c.1086C>A	ENSP00000404400.1:n.1086C>A
ENST00000434810.5:c.379C>A
ENST00000448511.5:c.1038C>A	ENSP00000404567.1:n.1038C>A
ENST00000456369.5:c.263+4017C>A
NM_001005735.1:c.1277C>A	NP_001005735.1:p.Thr426Asn
NM_001257387.1:c.485C>A	NP_001244316.1:p.Thr162Asn
NM_007194.3:c.1148C>A	NP_009125.1:p.Thr383Asn
NM_145862.2:c.1061C>A	NP_665861.1:p.Thr354Asn
XM_006724114.2:c.668C>A	XP_006724177.1:p.Thr223Asn
XM_006724116.2:c.605C>A	XP_006724179.2:p.Thr202Asn
XM_011529839.1:c.1307C>A	XP_011528141.1:p.Thr436Asn
XM_011529840.1:c.1220C>A	XP_011528142.1:p.Thr407Asn
XM_011529841.1:c.1076C>A	XP_011528143.1:p.Thr359Asn
XM_011529842.1:c.977C>A	XP_011528144.1:p.Thr326Asn
XM_011529843.1:c.947C>A	XP_011528145.1:p.Thr316Asn
XM_011529845.1:c.485C>A	XP_011528147.1:p.Thr162Asn
XR_937805.1:n.1307C>A
XR_937806.1:n.1215C>A
NM_001349956.1:c.947C>A	NP_001336885.1:p.Thr316Asn
NM_007194.4:c.1148C>A MANE Select	NP_009125.1:p.Thr383Asn
XM_006724114.3:c.701C>A	XP_006724177.2:p.Thr234Asn
XM_011529839.2:c.1307C>A	XP_011528141.1:p.Thr436Asn
XM_011529840.3:c.1220C>A	XP_011528142.1:p.Thr407Asn
XM_011529842.2:c.977C>A	XP_011528144.1:p.Thr326Asn
XM_011529845.2:c.485C>A	XP_011528147.1:p.Thr162Asn
XM_017028560.1:c.1271C>A	XP_016884049.1:p.Thr424Asn
XM_017028561.2:c.485C>A	XP_016884050.1:p.Thr162Asn
XM_024452148.1:c.1178C>A	XP_024307916.1:p.Thr393Asn
XM_024452149.1:c.1091C>A	XP_024307917.1:p.Thr364Asn
XR_937805.2:n.1318C>A
XR_937806.2:n.1231C>A
NM_001005735.2:c.1277C>A	NP_001005735.1:p.Thr426Asn
NM_001257387.2:c.485C>A	NP_001244316.1:p.Thr162Asn
NM_001349956.2:c.947C>A	NP_001336885.1:p.Thr316Asn