Canonical Allele Identifier: CA2740094810

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 3010188
• ClinVar RCV Id: RCV003867363

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695809_28695810delinsC , CM000684.2:g.28695809_28695810delinsC	GRCh38
NC_000022.10:g.29091797_29091798delinsC , CM000684.1:g.29091797_29091798delinsC	GRCh37
NC_000022.9:g.27421797_27421798delinsC	NCBI36
NG_008150.1:g.51025_51026delinsG
NG_008150.2:g.51057_51058delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711048.1:c.1009-568_1009-567delinsG	ENSP00000518557.1:n.1009-568_1009-567delinsG
ENST00000402731.6:c.958_959delinsG	ENSP00000384835.2:p.Thr320AlafsTer27
ENST00000404276.6:c.1159_1160delinsG MANE Select	ENSP00000385747.1:p.Thr387AlafsTer27
ENST00000425190.7:c.496_497delinsG	ENSP00000390244.2:p.Thr166AlafsTer27
ENST00000464581.6:c.499_500delinsG	ENSP00000483777.2:p.Thr167AlafsTer27
ENST00000648295.1:n.711_712delinsG
ENST00000649563.1:c.496_497delinsG	ENSP00000496928.1:p.Thr166AlafsTer27
ENST00000650281.1:c.1159_1160delinsG	ENSP00000497000.1:p.Thr387AlafsTer27
ENST00000328354.10:c.1159_1160delinsG	ENSP00000329178.6:p.Thr387AlafsTer27
ENST00000348295.7:c.1072_1073delinsG	ENSP00000329012.5:p.Thr358AlafsTer27
ENST00000382580.6:c.1288_1289delinsG	ENSP00000372023.2:p.Thr430AlafsTer27
ENST00000402731.5:c.1072_1073delinsG	ENSP00000384835.1:p.Thr358AlafsTer27
ENST00000403642.5:c.886_887delinsG	ENSP00000384919.1:p.Thr296AlafsTer27
ENST00000404276.5:c.1159_1160delinsG	ENSP00000385747.1:p.Thr387AlafsTer27
ENST00000405598.5:c.1159_1160delinsG	ENSP00000386087.1:p.Thr387AlafsTer27
ENST00000416671.5:c.*649_*650delinsG	ENSP00000402225.1:n.*649_*650delinsG
ENST00000417588.5:c.1068_1069delinsG	ENSP00000412901.1:n.1068_1069delinsG
ENST00000433728.5:c.1097_1098delinsG	ENSP00000404400.1:n.1097_1098delinsG
ENST00000434810.5:c.390_391delinsG
ENST00000448511.5:c.1049_1050delinsG	ENSP00000404567.1:n.1049_1050delinsG
ENST00000456369.5:c.263+4028_263+4029delinsG
NM_001005735.1:c.1288_1289delinsG	NP_001005735.1:p.Thr430AlafsTer27
NM_001257387.1:c.496_497delinsG	NP_001244316.1:p.Thr166AlafsTer27
NM_007194.3:c.1159_1160delinsG	NP_009125.1:p.Thr387AlafsTer27
NM_145862.2:c.1072_1073delinsG	NP_665861.1:p.Thr358AlafsTer27
XM_006724114.2:c.679_680delinsG	XP_006724177.1:p.Thr227AlafsTer27
XM_006724116.2:c.616_617delinsG	XP_006724179.2:p.Thr206AlafsTer27
XM_011529839.1:c.1318_1319delinsG	XP_011528141.1:p.Thr440AlafsTer27
XM_011529840.1:c.1231_1232delinsG	XP_011528142.1:p.Thr411AlafsTer27
XM_011529841.1:c.1087_1088delinsG	XP_011528143.1:p.Thr363AlafsTer27
XM_011529842.1:c.988_989delinsG	XP_011528144.1:p.Thr330AlafsTer27
XM_011529843.1:c.958_959delinsG	XP_011528145.1:p.Thr320AlafsTer27
XM_011529845.1:c.496_497delinsG	XP_011528147.1:p.Thr166AlafsTer27
XR_937805.1:n.1318_1319delinsG
XR_937806.1:n.1226_1227delinsG
NM_001349956.1:c.958_959delinsG	NP_001336885.1:p.Thr320AlafsTer27
NM_007194.4:c.1159_1160delinsG MANE Select	NP_009125.1:p.Thr387AlafsTer27
XM_006724114.3:c.712_713delinsG	XP_006724177.2:p.Thr238AlafsTer27
XM_011529839.2:c.1318_1319delinsG	XP_011528141.1:p.Thr440AlafsTer27
XM_011529840.3:c.1231_1232delinsG	XP_011528142.1:p.Thr411AlafsTer27
XM_011529842.2:c.988_989delinsG	XP_011528144.1:p.Thr330AlafsTer27
XM_011529845.2:c.496_497delinsG	XP_011528147.1:p.Thr166AlafsTer27
XM_017028560.1:c.1282_1283delinsG	XP_016884049.1:p.Thr428AlafsTer27
XM_017028561.2:c.496_497delinsG	XP_016884050.1:p.Thr166AlafsTer27
XM_024452148.1:c.1189_1190delinsG	XP_024307916.1:p.Thr397AlafsTer27
XM_024452149.1:c.1102_1103delinsG	XP_024307917.1:p.Thr368AlafsTer27
XR_937805.2:n.1329_1330delinsG
XR_937806.2:n.1242_1243delinsG
NM_001005735.2:c.1288_1289delinsG	NP_001005735.1:p.Thr430AlafsTer27
NM_001257387.2:c.496_497delinsG	NP_001244316.1:p.Thr166AlafsTer27
NM_001349956.2:c.958_959delinsG	NP_001336885.1:p.Thr320AlafsTer27