Canonical Allele Identifier: CA2400240183

Gene: CHEK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28699855_28699856delinsTC , CM000684.2:g.28699855_28699856delinsTC	GRCh38
NC_000022.10:g.29095843_29095844delinsTC , CM000684.1:g.29095843_29095844delinsTC	GRCh37
NC_000022.9:g.27425843_27425844delinsTC	NCBI36
NG_008150.1:g.46979_46980delinsGA
NG_008150.2:g.47011_47012delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439346.6:c.899_900delinsGA	ENSP00000396903.2:n.899_900delinsGA
ENST00000711048.1:c.990_991delinsGA	ENSP00000518557.1:p.Gln330=
ENST00000402731.6:c.789_790delinsGA	ENSP00000384835.2:p.Gln263=
ENST00000404276.6:c.990_991delinsGA MANE Select	ENSP00000385747.1:p.Gln330=
ENST00000425190.7:c.327_328delinsGA	ENSP00000390244.2:p.Gln109=
ENST00000464581.6:c.330_331delinsGA	ENSP00000483777.2:p.Gln110=
ENST00000648295.1:n.542_543delinsGA
ENST00000649563.1:c.327_328delinsGA	ENSP00000496928.1:p.Gln109=
ENST00000650281.1:c.990_991delinsGA	ENSP00000497000.1:p.Gln330=
ENST00000328354.10:c.990_991delinsGA	ENSP00000329178.6:p.Gln330=
ENST00000348295.7:c.990_991delinsGA	ENSP00000329012.5:p.Gln330=
ENST00000382580.6:c.1119_1120delinsGA	ENSP00000372023.2:p.Gln373=
ENST00000402731.5:c.990_991delinsGA	ENSP00000384835.1:p.Gln330=
ENST00000403642.5:c.717_718delinsGA	ENSP00000384919.1:p.Gln239=
ENST00000404276.5:c.990_991delinsGA	ENSP00000385747.1:p.Gln330=
ENST00000405598.5:c.990_991delinsGA	ENSP00000386087.1:p.Gln330=
ENST00000416671.5:c.*480_*481delinsGA	ENSP00000402225.1:n.*480_*481delinsGA
ENST00000417588.5:c.899_900delinsGA	ENSP00000412901.1:n.899_900delinsGA
ENST00000425190.6:c.327_328delinsGA	ENSP00000390244.1:p.Gln109=
ENST00000433028.6:c.*715_*716delinsGA	ENSP00000403659.1:n.*715_*716delinsGA
ENST00000433728.5:c.928_929delinsGA	ENSP00000404400.1:n.928_929delinsGA
ENST00000434810.5:c.221_222delinsGA
ENST00000439346.5:c.461_462delinsGA	ENSP00000396903.1:n.461_462delinsGA
ENST00000447421.5:c.789_790delinsGA	ENSP00000397478.2:p.Gln263=
ENST00000448511.5:c.880_881delinsGA	ENSP00000404567.1:n.880_881delinsGA
ENST00000456369.5:c.245_246delinsGA
ENST00000464581.5:c.330_331delinsGA	ENSP00000483777.1:p.Gln110=
ENST00000491919.5:n.547_548delinsGA
NM_001005735.1:c.1119_1120delinsGA	NP_001005735.1:p.Gln373=
NM_001257387.1:c.327_328delinsGA	NP_001244316.1:p.Gln109=
NM_007194.3:c.990_991delinsGA	NP_009125.1:p.Gln330=
NM_145862.2:c.990_991delinsGA	NP_665861.1:p.Gln330=
XM_006724114.2:c.510_511delinsGA	XP_006724177.1:p.Gln170=
XM_006724116.2:c.447_448delinsGA	XP_006724179.2:p.Gln149=
XM_011529839.1:c.1149_1150delinsGA	XP_011528141.1:p.Gln383=
XM_011529840.1:c.1149_1150delinsGA	XP_011528142.1:p.Gln383=
XM_011529841.1:c.918_919delinsGA	XP_011528143.1:p.Gln306=
XM_011529842.1:c.819_820delinsGA	XP_011528144.1:p.Gln273=
XM_011529843.1:c.789_790delinsGA	XP_011528145.1:p.Gln263=
XM_011529844.1:c.1149_1150delinsGA	XP_011528146.1:p.Gln383=
XM_011529845.1:c.327_328delinsGA	XP_011528147.1:p.Gln109=
XR_937805.1:n.1149_1150delinsGA
XR_937806.1:n.1144_1145delinsGA
XR_937807.1:n.1144_1145delinsGA
NM_001349956.1:c.789_790delinsGA	NP_001336885.1:p.Gln263=
NM_007194.4:c.990_991delinsGA MANE Select	NP_009125.1:p.Gln330=
XM_006724114.3:c.543_544delinsGA	XP_006724177.2:p.Gln181=
XM_011529839.2:c.1149_1150delinsGA	XP_011528141.1:p.Gln383=
XM_011529840.3:c.1149_1150delinsGA	XP_011528142.1:p.Gln383=
XM_011529842.2:c.819_820delinsGA	XP_011528144.1:p.Gln273=
XM_011529844.2:c.1149_1150delinsGA	XP_011528146.1:p.Gln383=
XM_011529845.2:c.327_328delinsGA	XP_011528147.1:p.Gln109=
XM_017028560.1:c.1113_1114delinsGA	XP_016884049.1:p.Gln371=
XM_017028561.2:c.327_328delinsGA	XP_016884050.1:p.Gln109=
XM_024452148.1:c.1020_1021delinsGA	XP_024307916.1:p.Gln340=
XM_024452149.1:c.1020_1021delinsGA	XP_024307917.1:p.Gln340=
XR_937805.2:n.1160_1161delinsGA
XR_937806.2:n.1160_1161delinsGA
XR_937807.2:n.1160_1161delinsGA
NM_001005735.2:c.1119_1120delinsGA	NP_001005735.1:p.Gln373=
NM_001257387.2:c.327_328delinsGA	NP_001244316.1:p.Gln109=
NM_001349956.2:c.789_790delinsGA	NP_001336885.1:p.Gln263=