Canonical Allele Identifier: CA891844292

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 570998
• ClinVar RCV Id: RCV000692012 ; RCV002386197
• dbSNP Id: rs1569121048
• MyVariant Identifiers: chr22:g.29095849del (hg19) ; chr22:g.28699861del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699865del , CM000684.2:g.28699865del	GRCh38
NC_000022.10:g.29095853del , CM000684.1:g.29095853del	GRCh37
NC_000022.9:g.27425853del	NCBI36
NG_008150.1:g.46974del
NG_008150.2:g.47006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.894del	ENSP00000396903.2:n.894del
ENST00000711048.1:c.985del	ENSP00000518557.1:p.Tyr329ThrfsTer?
ENST00000402731.6:c.784del	ENSP00000384835.2:p.Tyr262ThrfsTer20
ENST00000404276.6:c.985del MANE Select	ENSP00000385747.1:p.Tyr329ThrfsTer20
ENST00000425190.7:c.322del	ENSP00000390244.2:p.Tyr108ThrfsTer20
ENST00000464581.6:c.325del	ENSP00000483777.2:p.Tyr109ThrfsTer20
ENST00000648295.1:n.537del
ENST00000649563.1:c.322del	ENSP00000496928.1:p.Tyr108ThrfsTer20
ENST00000650281.1:c.985del	ENSP00000497000.1:p.Tyr329ThrfsTer20
ENST00000328354.10:c.985del	ENSP00000329178.6:p.Tyr329ThrfsTer20
ENST00000348295.7:c.985del	ENSP00000329012.5:p.Tyr329ThrfsTer24
ENST00000382580.6:c.1114del	ENSP00000372023.2:p.Tyr372ThrfsTer20
ENST00000402731.5:c.985del	ENSP00000384835.1:p.Tyr329ThrfsTer24
ENST00000403642.5:c.712del	ENSP00000384919.1:p.Tyr238ThrfsTer20
ENST00000404276.5:c.985del	ENSP00000385747.1:p.Tyr329ThrfsTer20
ENST00000405598.5:c.985del	ENSP00000386087.1:p.Tyr329ThrfsTer20
ENST00000416671.5:c.*475del	ENSP00000402225.1:n.*475del
ENST00000417588.5:c.894del	ENSP00000412901.1:n.894del
ENST00000425190.6:c.322del	ENSP00000390244.1:p.Tyr108ThrfsTer?
ENST00000433028.6:c.*710del	ENSP00000403659.1:n.*710del
ENST00000433728.5:c.923del	ENSP00000404400.1:n.923del
ENST00000434810.5:c.216del
ENST00000439346.5:c.456del	ENSP00000396903.1:n.456del
ENST00000447421.5:c.784del	ENSP00000397478.2:p.Tyr262ThrfsTer20
ENST00000448511.5:c.875del	ENSP00000404567.1:n.875del
ENST00000456369.5:c.240del
ENST00000464581.5:c.325del	ENSP00000483777.1:p.Tyr109ThrfsTer20
ENST00000491919.5:n.542del
NM_001005735.1:c.1114del	NP_001005735.1:p.Tyr372ThrfsTer20
NM_001257387.1:c.322del	NP_001244316.1:p.Tyr108ThrfsTer20
NM_007194.3:c.985del	NP_009125.1:p.Tyr329ThrfsTer20
NM_145862.2:c.985del	NP_665861.1:p.Tyr329ThrfsTer24
XM_006724114.2:c.505del	XP_006724177.1:p.Tyr169ThrfsTer20
XM_006724116.2:c.442del	XP_006724179.2:p.Tyr148ThrfsTer20
XM_011529839.1:c.1144del	XP_011528141.1:p.Tyr382ThrfsTer20
XM_011529840.1:c.1144del	XP_011528142.1:p.Tyr382ThrfsTer24
XM_011529841.1:c.913del	XP_011528143.1:p.Tyr305ThrfsTer20
XM_011529842.1:c.814del	XP_011528144.1:p.Tyr272ThrfsTer20
XM_011529843.1:c.784del	XP_011528145.1:p.Tyr262ThrfsTer20
XM_011529844.1:c.1144del	XP_011528146.1:p.Tyr382ThrfsTer11
XM_011529845.1:c.322del	XP_011528147.1:p.Tyr108ThrfsTer20
XR_937805.1:n.1144del
XR_937806.1:n.1139del
XR_937807.1:n.1139del
NM_001349956.1:c.784del	NP_001336885.1:p.Tyr262ThrfsTer20
NM_007194.4:c.985del MANE Select	NP_009125.1:p.Tyr329ThrfsTer20
XM_006724114.3:c.538del	XP_006724177.2:p.Tyr180ThrfsTer20
XM_011529839.2:c.1144del	XP_011528141.1:p.Tyr382ThrfsTer20
XM_011529840.3:c.1144del	XP_011528142.1:p.Tyr382ThrfsTer24
XM_011529842.2:c.814del	XP_011528144.1:p.Tyr272ThrfsTer20
XM_011529844.2:c.1144del	XP_011528146.1:p.Tyr382ThrfsTer11
XM_011529845.2:c.322del	XP_011528147.1:p.Tyr108ThrfsTer20
XM_017028560.1:c.1108del	XP_016884049.1:p.Tyr370ThrfsTer20
XM_017028561.2:c.322del	XP_016884050.1:p.Tyr108ThrfsTer20
XM_024452148.1:c.1015del	XP_024307916.1:p.Tyr339ThrfsTer20
XM_024452149.1:c.1015del	XP_024307917.1:p.Tyr339ThrfsTer24
XR_937805.2:n.1155del
XR_937806.2:n.1155del
XR_937807.2:n.1155del
NM_001005735.2:c.1114del	NP_001005735.1:p.Tyr372ThrfsTer20
NM_001257387.2:c.322del	NP_001244316.1:p.Tyr108ThrfsTer20
NM_001349956.2:c.784del	NP_001336885.1:p.Tyr262ThrfsTer20