Canonical Allele Identifier: CA16621055
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421183
ClinVar RCV Id: RCV000482812
dbSNP Id: rs1064794965

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695826_28695827insT , CM000684.2:g.28695826_28695827insT GRCh38
NC_000022.10:g.29091814_29091815insT , CM000684.1:g.29091814_29091815insT GRCh37
NC_000022.9:g.27421814_27421815insT NCBI36
NG_008150.1:g.51008_51009insA
NG_008150.2:g.51040_51041insA

Transcript Alleles

HGVS Amino-acid change
ENST00000711048.1:c.1009-585_1009-584insA ENSP00000518557.1:n.1009-585_1009-584insA...
ENST00000402731.6:c.941_942insA ENSP00000384835.2:p.Met314IlefsTer14
ENST00000404276.6:c.1142_1143insA MANE Select ENSP00000385747.1:p.Met381IlefsTer14
ENST00000425190.7:c.479_480insA ENSP00000390244.2:p.Met160IlefsTer14
ENST00000464581.6:c.482_483insA ENSP00000483777.2:p.Met161IlefsTer14
ENST00000648295.1:n.694_695insA
ENST00000649563.1:c.479_480insA ENSP00000496928.1:p.Met160IlefsTer14
ENST00000650281.1:c.1142_1143insA ENSP00000497000.1:p.Met381IlefsTer14
ENST00000328354.10:c.1142_1143insA ENSP00000329178.6:p.Met381IlefsTer14
ENST00000348295.7:c.1055_1056insA ENSP00000329012.5:p.Met352IlefsTer14
ENST00000382580.6:c.1271_1272insA ENSP00000372023.2:p.Met424IlefsTer14
ENST00000402731.5:c.1055_1056insA ENSP00000384835.1:p.Met352IlefsTer14
ENST00000403642.5:c.869_870insA ENSP00000384919.1:p.Met290IlefsTer14
ENST00000404276.5:c.1142_1143insA ENSP00000385747.1:p.Met381IlefsTer14
ENST00000405598.5:c.1142_1143insA ENSP00000386087.1:p.Met381IlefsTer14
ENST00000416671.5:c.*632_*633insA ENSP00000402225.1:n.*632_*633insA
ENST00000417588.5:c.1051_1052insA ENSP00000412901.1:n.1051_1052insA
ENST00000433728.5:c.1080_1081insA ENSP00000404400.1:n.1080_1081insA
ENST00000434810.5:c.373_374insA
ENST00000448511.5:c.1032_1033insA ENSP00000404567.1:n.1032_1033insA
ENST00000456369.5:c.263+4011_263+4012insA
NM_001005735.1:c.1271_1272insA NP_001005735.1:p.Met424IlefsTer14
NM_001257387.1:c.479_480insA NP_001244316.1:p.Met160IlefsTer14
NM_007194.3:c.1142_1143insA NP_009125.1:p.Met381IlefsTer14
NM_145862.2:c.1055_1056insA NP_665861.1:p.Met352IlefsTer14
XM_006724114.2:c.662_663insA XP_006724177.1:p.Met221IlefsTer14
XM_006724116.2:c.599_600insA XP_006724179.2:p.Met200IlefsTer14
XM_011529839.1:c.1301_1302insA XP_011528141.1:p.Met434IlefsTer14
XM_011529840.1:c.1214_1215insA XP_011528142.1:p.Met405IlefsTer14
XM_011529841.1:c.1070_1071insA XP_011528143.1:p.Met357IlefsTer14
XM_011529842.1:c.971_972insA XP_011528144.1:p.Met324IlefsTer14
XM_011529843.1:c.941_942insA XP_011528145.1:p.Met314IlefsTer14
XM_011529845.1:c.479_480insA XP_011528147.1:p.Met160IlefsTer14
XR_937805.1:n.1301_1302insA
XR_937806.1:n.1209_1210insA
NM_001349956.1:c.941_942insA NP_001336885.1:p.Met314IlefsTer14
NM_007194.4:c.1142_1143insA MANE Select NP_009125.1:p.Met381IlefsTer14
XM_006724114.3:c.695_696insA XP_006724177.2:p.Met232IlefsTer14
XM_011529839.2:c.1301_1302insA XP_011528141.1:p.Met434IlefsTer14
XM_011529840.3:c.1214_1215insA XP_011528142.1:p.Met405IlefsTer14
XM_011529842.2:c.971_972insA XP_011528144.1:p.Met324IlefsTer14
XM_011529845.2:c.479_480insA XP_011528147.1:p.Met160IlefsTer14
XM_017028560.1:c.1265_1266insA XP_016884049.1:p.Met422IlefsTer14
XM_017028561.2:c.479_480insA XP_016884050.1:p.Met160IlefsTer14
XM_024452148.1:c.1172_1173insA XP_024307916.1:p.Met391IlefsTer14
XM_024452149.1:c.1085_1086insA XP_024307917.1:p.Met362IlefsTer14
XR_937805.2:n.1312_1313insA
XR_937806.2:n.1225_1226insA
NM_001005735.2:c.1271_1272insA NP_001005735.1:p.Met424IlefsTer14
NM_001257387.2:c.479_480insA NP_001244316.1:p.Met160IlefsTer14
NM_001349956.2:c.941_942insA NP_001336885.1:p.Met314IlefsTer14