Canonical Allele Identifier: CA411100152

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 823069
• ClinVar RCV Id: RCV001018963 ; RCV001873314
• dbSNP Id: rs587780192
• gnomAD v4: 22-28699929-C-A
• MyVariant Identifiers: chr22:g.29095917C>A (hg19) ; chr22:g.28699929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699929C>A , CM000684.2:g.28699929C>A	GRCh38
NC_000022.10:g.29095917C>A , CM000684.1:g.29095917C>A	GRCh37
NC_000022.9:g.27425917C>A	NCBI36
NG_008150.1:g.46906G>T
NG_008150.2:g.46938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.826G>T	ENSP00000396903.2:n.826G>T
ENST00000711048.1:c.917G>T	ENSP00000518557.1:p.Gly306Val
ENST00000402731.6:c.716G>T	ENSP00000384835.2:p.Gly239Val
ENST00000404276.6:c.917G>T MANE Select	ENSP00000385747.1:p.Gly306Val
ENST00000425190.7:c.254G>T	ENSP00000390244.2:p.Gly85Val
ENST00000464581.6:c.257G>T	ENSP00000483777.2:p.Gly86Val
ENST00000648295.1:n.469G>T
ENST00000649563.1:c.254G>T	ENSP00000496928.1:p.Gly85Val
ENST00000650281.1:c.917G>T	ENSP00000497000.1:p.Gly306Val
ENST00000328354.10:c.917G>T	ENSP00000329178.6:p.Gly306Val
ENST00000348295.7:c.917G>T	ENSP00000329012.5:p.Gly306Val
ENST00000382580.6:c.1046G>T	ENSP00000372023.2:p.Gly349Val
ENST00000402731.5:c.917G>T	ENSP00000384835.1:p.Gly306Val
ENST00000403642.5:c.644G>T	ENSP00000384919.1:p.Gly215Val
ENST00000404276.5:c.917G>T	ENSP00000385747.1:p.Gly306Val
ENST00000405598.5:c.917G>T	ENSP00000386087.1:p.Gly306Val
ENST00000416671.5:c.*407G>T	ENSP00000402225.1:n.*407G>T
ENST00000417588.5:c.826G>T	ENSP00000412901.1:n.826G>T
ENST00000425190.6:c.254G>T	ENSP00000390244.1:p.Gly85Val
ENST00000433028.6:c.*642G>T	ENSP00000403659.1:n.*642G>T
ENST00000433728.5:c.855G>T	ENSP00000404400.1:p.Arg285Ser
ENST00000434810.5:c.148G>T
ENST00000439346.5:c.388G>T	ENSP00000396903.1:n.388G>T
ENST00000447421.5:c.716G>T	ENSP00000397478.2:p.Gly239Val
ENST00000448511.5:c.807G>T	ENSP00000404567.1:n.807G>T
ENST00000456369.5:c.172G>T
ENST00000464581.5:c.257G>T	ENSP00000483777.1:p.Gly86Val
ENST00000491919.5:n.474G>T
NM_001005735.1:c.1046G>T	NP_001005735.1:p.Gly349Val
NM_001257387.1:c.254G>T	NP_001244316.1:p.Gly85Val
NM_007194.3:c.917G>T	NP_009125.1:p.Gly306Val
NM_145862.2:c.917G>T	NP_665861.1:p.Gly306Val
XM_006724114.2:c.437G>T	XP_006724177.1:p.Gly146Val
XM_006724116.2:c.374G>T	XP_006724179.2:p.Gly125Val
XM_011529839.1:c.1076G>T	XP_011528141.1:p.Gly359Val
XM_011529840.1:c.1076G>T	XP_011528142.1:p.Gly359Val
XM_011529841.1:c.845G>T	XP_011528143.1:p.Gly282Val
XM_011529842.1:c.746G>T	XP_011528144.1:p.Gly249Val
XM_011529843.1:c.716G>T	XP_011528145.1:p.Gly239Val
XM_011529844.1:c.1076G>T	XP_011528146.1:p.Gly359Val
XM_011529845.1:c.254G>T	XP_011528147.1:p.Gly85Val
XR_937805.1:n.1076G>T
XR_937806.1:n.1071G>T
XR_937807.1:n.1071G>T
NM_001349956.1:c.716G>T	NP_001336885.1:p.Gly239Val
NM_007194.4:c.917G>T MANE Select	NP_009125.1:p.Gly306Val
XM_006724114.3:c.470G>T	XP_006724177.2:p.Gly157Val
XM_011529839.2:c.1076G>T	XP_011528141.1:p.Gly359Val
XM_011529840.3:c.1076G>T	XP_011528142.1:p.Gly359Val
XM_011529842.2:c.746G>T	XP_011528144.1:p.Gly249Val
XM_011529844.2:c.1076G>T	XP_011528146.1:p.Gly359Val
XM_011529845.2:c.254G>T	XP_011528147.1:p.Gly85Val
XM_017028560.1:c.1040G>T	XP_016884049.1:p.Gly347Val
XM_017028561.2:c.254G>T	XP_016884050.1:p.Gly85Val
XM_024452148.1:c.947G>T	XP_024307916.1:p.Gly316Val
XM_024452149.1:c.947G>T	XP_024307917.1:p.Gly316Val
XR_937805.2:n.1087G>T
XR_937806.2:n.1087G>T
XR_937807.2:n.1087G>T
NM_001005735.2:c.1046G>T	NP_001005735.1:p.Gly349Val
NM_001257387.2:c.254G>T	NP_001244316.1:p.Gly85Val
NM_001349956.2:c.716G>T	NP_001336885.1:p.Gly239Val