Canonical Allele Identifier: CA411096750

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 818585
• ClinVar RCV Id: RCV001010308 ; RCV001048118
• dbSNP Id: rs1601722357
• gnomAD v3: 22-28695762-C-T
• gnomAD v4: 22-28695762-C-T
• MyVariant Identifiers: chr22:g.29091750C>T (hg19) ; chr22:g.28695762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695762C>T , CM000684.2:g.28695762C>T	GRCh38
NC_000022.10:g.29091750C>T , CM000684.1:g.29091750C>T	GRCh37
NC_000022.9:g.27421750C>T	NCBI36
NG_008150.1:g.51073G>A
NG_008150.2:g.51105G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-520G>A	ENSP00000518557.1:n.1009-520G>A
ENST00000402731.6:c.1006G>A	ENSP00000384835.2:p.Gly336Arg
ENST00000404276.6:c.1207G>A MANE Select	ENSP00000385747.1:p.Gly403Arg
ENST00000425190.7:c.544G>A	ENSP00000390244.2:p.Gly182Arg
ENST00000464581.6:c.547G>A	ENSP00000483777.2:p.Gly183Arg
ENST00000648295.1:n.759G>A
ENST00000649563.1:c.544G>A	ENSP00000496928.1:p.Gly182Arg
ENST00000650281.1:c.1207G>A	ENSP00000497000.1:p.Gly403Arg
ENST00000328354.10:c.1207G>A	ENSP00000329178.6:p.Gly403Arg
ENST00000348295.7:c.1120G>A	ENSP00000329012.5:p.Gly374Arg
ENST00000382580.6:c.1336G>A	ENSP00000372023.2:p.Gly446Arg
ENST00000402731.5:c.1120G>A	ENSP00000384835.1:p.Gly374Arg
ENST00000403642.5:c.934G>A	ENSP00000384919.1:p.Gly312Arg
ENST00000404276.5:c.1207G>A	ENSP00000385747.1:p.Gly403Arg
ENST00000405598.5:c.1207G>A	ENSP00000386087.1:p.Gly403Arg
ENST00000416671.5:c.*697G>A	ENSP00000402225.1:n.*697G>A
ENST00000417588.5:c.1116G>A	ENSP00000412901.1:n.1116G>A
ENST00000433728.5:c.1145G>A	ENSP00000404400.1:n.1145G>A
ENST00000434810.5:c.438G>A
ENST00000448511.5:c.1097G>A	ENSP00000404567.1:n.1097G>A
ENST00000456369.5:c.263+4076G>A
NM_001005735.1:c.1336G>A	NP_001005735.1:p.Gly446Arg
NM_001257387.1:c.544G>A	NP_001244316.1:p.Gly182Arg
NM_007194.3:c.1207G>A	NP_009125.1:p.Gly403Arg
NM_145862.2:c.1120G>A	NP_665861.1:p.Gly374Arg
XM_006724114.2:c.727G>A	XP_006724177.1:p.Gly243Arg
XM_006724116.2:c.664G>A	XP_006724179.2:p.Gly222Arg
XM_011529839.1:c.1366G>A	XP_011528141.1:p.Gly456Arg
XM_011529840.1:c.1279G>A	XP_011528142.1:p.Gly427Arg
XM_011529841.1:c.1135G>A	XP_011528143.1:p.Gly379Arg
XM_011529842.1:c.1036G>A	XP_011528144.1:p.Gly346Arg
XM_011529843.1:c.1006G>A	XP_011528145.1:p.Gly336Arg
XM_011529845.1:c.544G>A	XP_011528147.1:p.Gly182Arg
XR_937805.1:n.1366G>A
NM_001349956.1:c.1006G>A	NP_001336885.1:p.Gly336Arg
NM_007194.4:c.1207G>A MANE Select	NP_009125.1:p.Gly403Arg
XM_006724114.3:c.760G>A	XP_006724177.2:p.Gly254Arg
XM_011529839.2:c.1366G>A	XP_011528141.1:p.Gly456Arg
XM_011529840.3:c.1279G>A	XP_011528142.1:p.Gly427Arg
XM_011529842.2:c.1036G>A	XP_011528144.1:p.Gly346Arg
XM_011529845.2:c.544G>A	XP_011528147.1:p.Gly182Arg
XM_017028560.1:c.1330G>A	XP_016884049.1:p.Gly444Arg
XM_017028561.2:c.544G>A	XP_016884050.1:p.Gly182Arg
XM_024452148.1:c.1237G>A	XP_024307916.1:p.Gly413Arg
XM_024452149.1:c.1150G>A	XP_024307917.1:p.Gly384Arg
XR_937805.2:n.1377G>A
NM_001005735.2:c.1336G>A	NP_001005735.1:p.Gly446Arg
NM_001257387.2:c.544G>A	NP_001244316.1:p.Gly182Arg
NM_001349956.2:c.1006G>A	NP_001336885.1:p.Gly336Arg