Canonical Allele Identifier: CA891844291

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 573177
• ClinVar RCV Id: RCV000694776 ; RCV003319406
• dbSNP Id: rs1569120831
• MyVariant Identifiers: chr22:g.29095827del (hg19) ; chr22:g.28699839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699839del , CM000684.2:g.28699839del	GRCh38
NC_000022.10:g.29095827del , CM000684.1:g.29095827del	GRCh37
NC_000022.9:g.27425827del	NCBI36
NG_008150.1:g.46996del
NG_008150.2:g.47028del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.916del	ENSP00000396903.2:n.916del
ENST00000711048.1:c.1007del	ENSP00000518557.1:p.Gln336ArgfsTer?
ENST00000402731.6:c.806del	ENSP00000384835.2:p.Gln269ArgfsTer13
ENST00000404276.6:c.1007del MANE Select	ENSP00000385747.1:p.Gln336ArgfsTer13
ENST00000425190.7:c.344del	ENSP00000390244.2:p.Gln115ArgfsTer13
ENST00000464581.6:c.347del	ENSP00000483777.2:p.Gln116ArgfsTer13
ENST00000648295.1:n.559del
ENST00000649563.1:c.344del	ENSP00000496928.1:p.Gln115ArgfsTer13
ENST00000650281.1:c.1007del	ENSP00000497000.1:p.Gln336ArgfsTer13
ENST00000328354.10:c.1007del	ENSP00000329178.6:p.Gln336ArgfsTer13
ENST00000348295.7:c.1007del	ENSP00000329012.5:p.Gln336ArgfsTer17
ENST00000382580.6:c.1136del	ENSP00000372023.2:p.Gln379ArgfsTer13
ENST00000402731.5:c.1007del	ENSP00000384835.1:p.Gln336ArgfsTer17
ENST00000403642.5:c.734del	ENSP00000384919.1:p.Gln245ArgfsTer13
ENST00000404276.5:c.1007del	ENSP00000385747.1:p.Gln336ArgfsTer13
ENST00000405598.5:c.1007del	ENSP00000386087.1:p.Gln336ArgfsTer13
ENST00000416671.5:c.*497del	ENSP00000402225.1:n.*497del
ENST00000417588.5:c.916del	ENSP00000412901.1:n.916del
ENST00000425190.6:c.344del	ENSP00000390244.1:p.Gln115ArgfsTer?
ENST00000433028.6:c.*732del	ENSP00000403659.1:n.*732del
ENST00000433728.5:c.945del	ENSP00000404400.1:n.945del
ENST00000434810.5:c.238del
ENST00000439346.5:c.478del	ENSP00000396903.1:n.478del
ENST00000447421.5:c.806del	ENSP00000397478.2:p.Gln269ArgfsTer13
ENST00000448511.5:c.897del	ENSP00000404567.1:n.897del
ENST00000456369.5:c.262del
ENST00000464581.5:c.347del	ENSP00000483777.1:p.Gln116ArgfsTer13
ENST00000491919.5:n.564del
NM_001005735.1:c.1136del	NP_001005735.1:p.Gln379ArgfsTer13
NM_001257387.1:c.344del	NP_001244316.1:p.Gln115ArgfsTer13
NM_007194.3:c.1007del	NP_009125.1:p.Gln336ArgfsTer13
NM_145862.2:c.1007del	NP_665861.1:p.Gln336ArgfsTer17
XM_006724114.2:c.527del	XP_006724177.1:p.Gln176ArgfsTer13
XM_006724116.2:c.464del	XP_006724179.2:p.Gln155ArgfsTer13
XM_011529839.1:c.1166del	XP_011528141.1:p.Gln389ArgfsTer13
XM_011529840.1:c.1166del	XP_011528142.1:p.Gln389ArgfsTer17
XM_011529841.1:c.935del	XP_011528143.1:p.Gln312ArgfsTer13
XM_011529842.1:c.836del	XP_011528144.1:p.Gln279ArgfsTer13
XM_011529843.1:c.806del	XP_011528145.1:p.Gln269ArgfsTer13
XM_011529844.1:c.1166del	XP_011528146.1:p.Gln389ArgfsTer4
XM_011529845.1:c.344del	XP_011528147.1:p.Gln115ArgfsTer13
XR_937805.1:n.1166del
XR_937806.1:n.1161del
XR_937807.1:n.1161del
NM_001349956.1:c.806del	NP_001336885.1:p.Gln269ArgfsTer13
NM_007194.4:c.1007del MANE Select	NP_009125.1:p.Gln336ArgfsTer13
XM_006724114.3:c.560del	XP_006724177.2:p.Gln187ArgfsTer13
XM_011529839.2:c.1166del	XP_011528141.1:p.Gln389ArgfsTer13
XM_011529840.3:c.1166del	XP_011528142.1:p.Gln389ArgfsTer17
XM_011529842.2:c.836del	XP_011528144.1:p.Gln279ArgfsTer13
XM_011529844.2:c.1166del	XP_011528146.1:p.Gln389ArgfsTer4
XM_011529845.2:c.344del	XP_011528147.1:p.Gln115ArgfsTer13
XM_017028560.1:c.1130del	XP_016884049.1:p.Gln377ArgfsTer13
XM_017028561.2:c.344del	XP_016884050.1:p.Gln115ArgfsTer13
XM_024452148.1:c.1037del	XP_024307916.1:p.Gln346ArgfsTer13
XM_024452149.1:c.1037del	XP_024307917.1:p.Gln346ArgfsTer17
XR_937805.2:n.1177del
XR_937806.2:n.1177del
XR_937807.2:n.1177del
NM_001005735.2:c.1136del	NP_001005735.1:p.Gln379ArgfsTer13
NM_001257387.2:c.344del	NP_001244316.1:p.Gln115ArgfsTer13
NM_001349956.2:c.806del	NP_001336885.1:p.Gln269ArgfsTer13