Canonical Allele Identifier: CA658684244

Gene: CHEK2

Linked Data

• ClinVar Variation Id: 489874
• ClinVar RCV Id: RCV000580741

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695763_28695764delinsCT , CM000684.2:g.28695763_28695764delinsCT	GRCh38
NC_000022.10:g.29091751_29091752delinsCT , CM000684.1:g.29091751_29091752delinsCT	GRCh37
NC_000022.9:g.27421751_27421752delinsCT	NCBI36
NG_008150.1:g.51071_51072delinsAG
NG_008150.2:g.51103_51104delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-522_1009-521delinsAG	ENSP00000518557.1:n.1009-522_1009-521deli...
ENST00000402731.6:c.1004_1005delinsAG	ENSP00000384835.2:p.Ala335Glu
ENST00000404276.6:c.1205_1206delinsAG MANE Select	ENSP00000385747.1:p.Ala402Glu
ENST00000425190.7:c.542_543delinsAG	ENSP00000390244.2:p.Ala181Glu
ENST00000464581.6:c.545_546delinsAG	ENSP00000483777.2:p.Ala182Glu
ENST00000648295.1:n.757_758delinsAG
ENST00000649563.1:c.542_543delinsAG	ENSP00000496928.1:p.Ala181Glu
ENST00000650281.1:c.1205_1206delinsAG	ENSP00000497000.1:p.Ala402Glu
ENST00000328354.10:c.1205_1206delinsAG	ENSP00000329178.6:p.Ala402Glu
ENST00000348295.7:c.1118_1119delinsAG	ENSP00000329012.5:p.Ala373Glu
ENST00000382580.6:c.1334_1335delinsAG	ENSP00000372023.2:p.Ala445Glu
ENST00000402731.5:c.1118_1119delinsAG	ENSP00000384835.1:p.Ala373Glu
ENST00000403642.5:c.932_933delinsAG	ENSP00000384919.1:p.Ala311Glu
ENST00000404276.5:c.1205_1206delinsAG	ENSP00000385747.1:p.Ala402Glu
ENST00000405598.5:c.1205_1206delinsAG	ENSP00000386087.1:p.Ala402Glu
ENST00000416671.5:c.*695_*696delinsAG	ENSP00000402225.1:n.*695_*696delinsAG
ENST00000417588.5:c.1114_1115delinsAG	ENSP00000412901.1:n.1114_1115delinsAG
ENST00000433728.5:c.1143_1144delinsAG	ENSP00000404400.1:n.1143_1144delinsAG
ENST00000434810.5:c.436_437delinsAG
ENST00000448511.5:c.1095_1096delinsAG	ENSP00000404567.1:n.1095_1096delinsAG
ENST00000456369.5:c.263+4074_263+4075delinsAG
NM_001005735.1:c.1334_1335delinsAG	NP_001005735.1:p.Ala445Glu
NM_001257387.1:c.542_543delinsAG	NP_001244316.1:p.Ala181Glu
NM_007194.3:c.1205_1206delinsAG	NP_009125.1:p.Ala402Glu
NM_145862.2:c.1118_1119delinsAG	NP_665861.1:p.Ala373Glu
XM_006724114.2:c.725_726delinsAG	XP_006724177.1:p.Ala242Glu
XM_006724116.2:c.662_663delinsAG	XP_006724179.2:p.Ala221Glu
XM_011529839.1:c.1364_1365delinsAG	XP_011528141.1:p.Ala455Glu
XM_011529840.1:c.1277_1278delinsAG	XP_011528142.1:p.Ala426Glu
XM_011529841.1:c.1133_1134delinsAG	XP_011528143.1:p.Ala378Glu
XM_011529842.1:c.1034_1035delinsAG	XP_011528144.1:p.Ala345Glu
XM_011529843.1:c.1004_1005delinsAG	XP_011528145.1:p.Ala335Glu
XM_011529845.1:c.542_543delinsAG	XP_011528147.1:p.Ala181Glu
XR_937805.1:n.1364_1365delinsAG
NM_001349956.1:c.1004_1005delinsAG	NP_001336885.1:p.Ala335Glu
NM_007194.4:c.1205_1206delinsAG MANE Select	NP_009125.1:p.Ala402Glu
XM_006724114.3:c.758_759delinsAG	XP_006724177.2:p.Ala253Glu
XM_011529839.2:c.1364_1365delinsAG	XP_011528141.1:p.Ala455Glu
XM_011529840.3:c.1277_1278delinsAG	XP_011528142.1:p.Ala426Glu
XM_011529842.2:c.1034_1035delinsAG	XP_011528144.1:p.Ala345Glu
XM_011529845.2:c.542_543delinsAG	XP_011528147.1:p.Ala181Glu
XM_017028560.1:c.1328_1329delinsAG	XP_016884049.1:p.Ala443Glu
XM_017028561.2:c.542_543delinsAG	XP_016884050.1:p.Ala181Glu
XM_024452148.1:c.1235_1236delinsAG	XP_024307916.1:p.Ala412Glu
XM_024452149.1:c.1148_1149delinsAG	XP_024307917.1:p.Ala383Glu
XR_937805.2:n.1375_1376delinsAG
NM_001005735.2:c.1334_1335delinsAG	NP_001005735.1:p.Ala445Glu
NM_001257387.2:c.542_543delinsAG	NP_001244316.1:p.Ala181Glu
NM_001349956.2:c.1004_1005delinsAG	NP_001336885.1:p.Ala335Glu