Canonical Allele Identifier: CA411091342

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 460810
• ClinVar RCV Id: RCV000546521 ; RCV000572698 ; RCV001569385
• dbSNP Id: rs948928965
• gnomAD v2: 22-29083949-C-T
• gnomAD v3: 22-28687961-C-T
• gnomAD v4: 22-28687961-C-T
• COSMIC: COSM1559596
• MyVariant Identifiers: chr22:g.29083949C>T (hg19) ; chr22:g.29083949_29083950delinsTG (hg19) ; chr22:g.28687961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28687961C>T , CM000684.2:g.28687961C>T	GRCh38
NC_000022.10:g.29083949C>T , CM000684.1:g.29083949C>T	GRCh37
NC_000022.9:g.27413949C>T	NCBI36
NG_008150.1:g.58874G>A
NG_008150.2:g.58906G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.*303G>A	ENSP00000518557.1:n.*303G>A
ENST00000402731.6:c.1367G>A	ENSP00000384835.2:p.Arg456His
ENST00000404276.6:c.1568G>A MANE Select	ENSP00000385747.1:p.Arg523His
ENST00000425190.7:c.905G>A	ENSP00000390244.2:p.Arg302His
ENST00000464581.6:c.908G>A	ENSP00000483777.2:p.Arg303His
ENST00000648295.1:n.1120G>A
ENST00000649563.1:c.905G>A	ENSP00000496928.1:p.Arg302His
ENST00000650281.1:c.1568G>A	ENSP00000497000.1:p.Arg523His
ENST00000328354.10:c.1568G>A	ENSP00000329178.6:p.Arg523His
ENST00000348295.7:c.1481G>A	ENSP00000329012.5:p.Arg494His
ENST00000382580.6:c.1697G>A	ENSP00000372023.2:p.Arg566His
ENST00000402731.5:c.1481G>A	ENSP00000384835.1:p.Arg494His
ENST00000403642.5:c.1295G>A	ENSP00000384919.1:p.Arg432His
ENST00000404276.5:c.1568G>A	ENSP00000385747.1:p.Arg523His
ENST00000405598.5:c.1568G>A	ENSP00000386087.1:p.Arg523His
ENST00000416671.5:c.*1058G>A	ENSP00000402225.1:n.*1058G>A
ENST00000417588.5:c.1477G>A	ENSP00000412901.1:n.1477G>A
ENST00000433728.5:c.1506G>A	ENSP00000404400.1:n.1506G>A
ENST00000434810.5:c.766G>A
ENST00000448511.5:c.1458G>A	ENSP00000404567.1:n.1458G>A
ENST00000456369.5:c.370G>A
ENST00000472807.1:n.302G>A
NM_001005735.1:c.1697G>A	NP_001005735.1:p.Arg566His
NM_001257387.1:c.905G>A	NP_001244316.1:p.Arg302His
NM_007194.3:c.1568G>A	NP_009125.1:p.Arg523His
NM_145862.2:c.1481G>A	NP_665861.1:p.Arg494His
XM_006724114.2:c.1088G>A	XP_006724177.1:p.Arg363His
XM_006724116.2:c.1025G>A	XP_006724179.2:p.Arg342His
XM_011529839.1:c.1727G>A	XP_011528141.1:p.Arg576His
XM_011529840.1:c.1640G>A	XP_011528142.1:p.Arg547His
XM_011529841.1:c.1496G>A	XP_011528143.1:p.Arg499His
XM_011529842.1:c.1397G>A	XP_011528144.1:p.Arg466His
XM_011529843.1:c.1367G>A	XP_011528145.1:p.Arg456His
XM_011529845.1:c.905G>A	XP_011528147.1:p.Arg302His
XR_937805.1:n.1727G>A
NM_001349956.1:c.1367G>A	NP_001336885.1:p.Arg456His
NM_007194.4:c.1568G>A MANE Select	NP_009125.1:p.Arg523His
XM_006724114.3:c.1121G>A	XP_006724177.2:p.Arg374His
XM_011529839.2:c.1727G>A	XP_011528141.1:p.Arg576His
XM_011529840.3:c.1640G>A	XP_011528142.1:p.Arg547His
XM_011529842.2:c.1397G>A	XP_011528144.1:p.Arg466His
XM_011529845.2:c.905G>A	XP_011528147.1:p.Arg302His
XM_017028560.1:c.1691G>A	XP_016884049.1:p.Arg564His
XM_017028561.2:c.905G>A	XP_016884050.1:p.Arg302His
XM_024452148.1:c.1598G>A	XP_024307916.1:p.Arg533His
XM_024452149.1:c.1511G>A	XP_024307917.1:p.Arg504His
XR_937805.2:n.1738G>A
NM_001005735.2:c.1697G>A	NP_001005735.1:p.Arg566His
NM_001257387.2:c.905G>A	NP_001244316.1:p.Arg302His
NM_001349956.2:c.1367G>A	NP_001336885.1:p.Arg456His