Canonical Allele Identifier: CA658656826

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 479553
• ClinVar RCV Id: RCV003230544 ; RCV003470813
• dbSNP Id: rs1555913645

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695723_28695731delinsCTCCT , CM000684.2:g.28695723_28695731delinsCTCCT	GRCh38
NC_000022.10:g.29091711_29091719delinsCTCCT , CM000684.1:g.29091711_29091719delinsCTCCT	GRCh37
NC_000022.9:g.27421711_27421719delinsCTCCT	NCBI36
NG_008150.1:g.51104_51112delinsAGGAG
NG_008150.2:g.51136_51144delinsAGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-489_1009-481delinsAGGAG	ENSP00000518557.1:n.1009-489_1009-481deli...
ENST00000402731.6:c.1037_1045delinsAGGAG	ENSP00000384835.2:p.Leu346Ter
ENST00000404276.6:c.1238_1246delinsAGGAG MANE Select	ENSP00000385747.1:p.Leu413Ter
ENST00000425190.7:c.575_583delinsAGGAG	ENSP00000390244.2:p.Leu192Ter
ENST00000464581.6:c.578_586delinsAGGAG	ENSP00000483777.2:p.Leu193Ter
ENST00000648295.1:n.790_798delinsAGGAG
ENST00000649563.1:c.575_583delinsAGGAG	ENSP00000496928.1:p.Leu192Ter
ENST00000650281.1:c.1238_1246delinsAGGAG	ENSP00000497000.1:p.Leu413Ter
ENST00000328354.10:c.1238_1246delinsAGGAG	ENSP00000329178.6:p.Leu413Ter
ENST00000348295.7:c.1151_1159delinsAGGAG	ENSP00000329012.5:p.Leu384Ter
ENST00000382580.6:c.1367_1375delinsAGGAG	ENSP00000372023.2:p.Leu456Ter
ENST00000402731.5:c.1151_1159delinsAGGAG	ENSP00000384835.1:p.Leu384Ter
ENST00000403642.5:c.965_973delinsAGGAG	ENSP00000384919.1:p.Leu322Ter
ENST00000404276.5:c.1238_1246delinsAGGAG	ENSP00000385747.1:p.Leu413Ter
ENST00000405598.5:c.1238_1246delinsAGGAG	ENSP00000386087.1:p.Leu413Ter
ENST00000416671.5:c.*728_*736delinsAGGAG	ENSP00000402225.1:n.*728_*736delinsAGGAG
ENST00000417588.5:c.1147_1155delinsAGGAG	ENSP00000412901.1:n.1147_1155delinsAGGAG
ENST00000433728.5:c.1176_1184delinsAGGAG	ENSP00000404400.1:n.1176_1184delinsAGGAG
ENST00000434810.5:c.469_477delinsAGGAG
ENST00000448511.5:c.1128_1136delinsAGGAG	ENSP00000404567.1:n.1128_1136delinsAGGAG
ENST00000456369.5:c.263+4107_263+4115delinsAGGAG
NM_001005735.1:c.1367_1375delinsAGGAG	NP_001005735.1:p.Leu456Ter
NM_001257387.1:c.575_583delinsAGGAG	NP_001244316.1:p.Leu192Ter
NM_007194.3:c.1238_1246delinsAGGAG	NP_009125.1:p.Leu413Ter
NM_145862.2:c.1151_1159delinsAGGAG	NP_665861.1:p.Leu384Ter
XM_006724114.2:c.758_766delinsAGGAG	XP_006724177.1:p.Leu253Ter
XM_006724116.2:c.695_703delinsAGGAG	XP_006724179.2:p.Leu232Ter
XM_011529839.1:c.1397_1405delinsAGGAG	XP_011528141.1:p.Leu466Ter
XM_011529840.1:c.1310_1318delinsAGGAG	XP_011528142.1:p.Leu437Ter
XM_011529841.1:c.1166_1174delinsAGGAG	XP_011528143.1:p.Leu389Ter
XM_011529842.1:c.1067_1075delinsAGGAG	XP_011528144.1:p.Leu356Ter
XM_011529843.1:c.1037_1045delinsAGGAG	XP_011528145.1:p.Leu346Ter
XM_011529845.1:c.575_583delinsAGGAG	XP_011528147.1:p.Leu192Ter
XR_937805.1:n.1397_1405delinsAGGAG
NM_001349956.1:c.1037_1045delinsAGGAG	NP_001336885.1:p.Leu346Ter
NM_007194.4:c.1238_1246delinsAGGAG MANE Select	NP_009125.1:p.Leu413Ter
XM_006724114.3:c.791_799delinsAGGAG	XP_006724177.2:p.Leu264Ter
XM_011529839.2:c.1397_1405delinsAGGAG	XP_011528141.1:p.Leu466Ter
XM_011529840.3:c.1310_1318delinsAGGAG	XP_011528142.1:p.Leu437Ter
XM_011529842.2:c.1067_1075delinsAGGAG	XP_011528144.1:p.Leu356Ter
XM_011529845.2:c.575_583delinsAGGAG	XP_011528147.1:p.Leu192Ter
XM_017028560.1:c.1361_1369delinsAGGAG	XP_016884049.1:p.Leu454Ter
XM_017028561.2:c.575_583delinsAGGAG	XP_016884050.1:p.Leu192Ter
XM_024452148.1:c.1268_1276delinsAGGAG	XP_024307916.1:p.Leu423Ter
XM_024452149.1:c.1181_1189delinsAGGAG	XP_024307917.1:p.Leu394Ter
XR_937805.2:n.1408_1416delinsAGGAG
NM_001005735.2:c.1367_1375delinsAGGAG	NP_001005735.1:p.Leu456Ter
NM_001257387.2:c.575_583delinsAGGAG	NP_001244316.1:p.Leu192Ter
NM_001349956.2:c.1037_1045delinsAGGAG	NP_001336885.1:p.Leu346Ter