Canonical Allele Identifier: CA2499226072

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 1072482
• ClinVar RCV Id: RCV001385211
• dbSNP Id: rs786203053

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699929_28699930del , CM000684.2:g.28699929_28699930del	GRCh38
NC_000022.10:g.29095917_29095918del , CM000684.1:g.29095917_29095918del	GRCh37
NC_000022.9:g.27425917_27425918del	NCBI36
NG_008150.1:g.46908_46909del
NG_008150.2:g.46940_46941del

Transcript Alleles

HGVS	Amino-acid change
ENST00000439346.6:c.828_829del	ENSP00000396903.2:n.828_829del
ENST00000711048.1:c.919_920del	ENSP00000518557.1:p.Gly307ArgfsTer4
ENST00000402731.6:c.718_719del	ENSP00000384835.2:p.Gly240ArgfsTer4
ENST00000404276.6:c.919_920del MANE Select	ENSP00000385747.1:p.Gly307ArgfsTer4
ENST00000425190.7:c.256_257del	ENSP00000390244.2:p.Gly86ArgfsTer4
ENST00000464581.6:c.259_260del	ENSP00000483777.2:p.Gly87ArgfsTer4
ENST00000648295.1:n.471_472del
ENST00000649563.1:c.256_257del	ENSP00000496928.1:p.Gly86ArgfsTer4
ENST00000650281.1:c.919_920del	ENSP00000497000.1:p.Gly307ArgfsTer4
ENST00000328354.10:c.919_920del	ENSP00000329178.6:p.Gly307ArgfsTer4
ENST00000348295.7:c.919_920del	ENSP00000329012.5:p.Gly307ArgfsTer4
ENST00000382580.6:c.1048_1049del	ENSP00000372023.2:p.Gly350ArgfsTer4
ENST00000402731.5:c.919_920del	ENSP00000384835.1:p.Gly307ArgfsTer4
ENST00000403642.5:c.646_647del	ENSP00000384919.1:p.Gly216ArgfsTer4
ENST00000404276.5:c.919_920del	ENSP00000385747.1:p.Gly307ArgfsTer4
ENST00000405598.5:c.919_920del	ENSP00000386087.1:p.Gly307ArgfsTer4
ENST00000416671.5:c.*409_*410del	ENSP00000402225.1:n.*409_*410del
ENST00000417588.5:c.828_829del	ENSP00000412901.1:n.828_829del
ENST00000425190.6:c.256_257del	ENSP00000390244.1:p.Gly86ArgfsTer4
ENST00000433028.6:c.*644_*645del	ENSP00000403659.1:n.*644_*645del
ENST00000433728.5:c.857_858del	ENSP00000404400.1:p.Gly286GlufsTer13
ENST00000434810.5:c.150_151del
ENST00000439346.5:c.390_391del	ENSP00000396903.1:n.390_391del
ENST00000447421.5:c.718_719del	ENSP00000397478.2:p.Gly240ArgfsTer4
ENST00000448511.5:c.809_810del	ENSP00000404567.1:n.809_810del
ENST00000456369.5:c.174_175del
ENST00000464581.5:c.259_260del	ENSP00000483777.1:p.Gly87ArgfsTer4
ENST00000491919.5:n.476_477del
NM_001005735.1:c.1048_1049del	NP_001005735.1:p.Gly350ArgfsTer4
NM_001257387.1:c.256_257del	NP_001244316.1:p.Gly86ArgfsTer4
NM_007194.3:c.919_920del	NP_009125.1:p.Gly307ArgfsTer4
NM_145862.2:c.919_920del	NP_665861.1:p.Gly307ArgfsTer4
XM_006724114.2:c.439_440del	XP_006724177.1:p.Gly147ArgfsTer4
XM_006724116.2:c.376_377del	XP_006724179.2:p.Gly126ArgfsTer4
XM_011529839.1:c.1078_1079del	XP_011528141.1:p.Gly360ArgfsTer4
XM_011529840.1:c.1078_1079del	XP_011528142.1:p.Gly360ArgfsTer4
XM_011529841.1:c.847_848del	XP_011528143.1:p.Gly283ArgfsTer4
XM_011529842.1:c.748_749del	XP_011528144.1:p.Gly250ArgfsTer4
XM_011529843.1:c.718_719del	XP_011528145.1:p.Gly240ArgfsTer4
XM_011529844.1:c.1078_1079del	XP_011528146.1:p.Gly360ArgfsTer4
XM_011529845.1:c.256_257del	XP_011528147.1:p.Gly86ArgfsTer4
XR_937805.1:n.1078_1079del
XR_937806.1:n.1073_1074del
XR_937807.1:n.1073_1074del
NM_001349956.1:c.718_719del	NP_001336885.1:p.Gly240ArgfsTer4
NM_007194.4:c.919_920del MANE Select	NP_009125.1:p.Gly307ArgfsTer4
XM_006724114.3:c.472_473del	XP_006724177.2:p.Gly158ArgfsTer4
XM_011529839.2:c.1078_1079del	XP_011528141.1:p.Gly360ArgfsTer4
XM_011529840.3:c.1078_1079del	XP_011528142.1:p.Gly360ArgfsTer4
XM_011529842.2:c.748_749del	XP_011528144.1:p.Gly250ArgfsTer4
XM_011529844.2:c.1078_1079del	XP_011528146.1:p.Gly360ArgfsTer4
XM_011529845.2:c.256_257del	XP_011528147.1:p.Gly86ArgfsTer4
XM_017028560.1:c.1042_1043del	XP_016884049.1:p.Gly348ArgfsTer4
XM_017028561.2:c.256_257del	XP_016884050.1:p.Gly86ArgfsTer4
XM_024452148.1:c.949_950del	XP_024307916.1:p.Gly317ArgfsTer4
XM_024452149.1:c.949_950del	XP_024307917.1:p.Gly317ArgfsTer4
XR_937805.2:n.1089_1090del
XR_937806.2:n.1089_1090del
XR_937807.2:n.1089_1090del
NM_001005735.2:c.1048_1049del	NP_001005735.1:p.Gly350ArgfsTer4
NM_001257387.2:c.256_257del	NP_001244316.1:p.Gly86ArgfsTer4
NM_001349956.2:c.718_719del	NP_001336885.1:p.Gly240ArgfsTer4