Canonical Allele Identifier: CA411097064
Gene: CHEK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695847A>C , CM000684.2:g.28695847A>C GRCh38
NC_000022.10:g.29091835A>C , CM000684.1:g.29091835A>C GRCh37
NC_000022.9:g.27421835A>C NCBI36
NG_008150.1:g.50988T>G
NG_008150.2:g.51020T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.1009-605T>G ENSP00000518557.1:n.1009-605T>G
ENST00000402731.6:c.921T>G ENSP00000384835.2:p.Ile307Met
ENST00000404276.6:c.1122T>G MANE Select ENSP00000385747.1:p.Ile374Met
ENST00000425190.7:c.459T>G ENSP00000390244.2:p.Ile153Met
ENST00000464581.6:c.462T>G ENSP00000483777.2:p.Ile154Met
ENST00000648295.1:n.674T>G
ENST00000649563.1:c.459T>G ENSP00000496928.1:p.Ile153Met
ENST00000650281.1:c.1122T>G ENSP00000497000.1:p.Ile374Met
ENST00000328354.10:c.1122T>G ENSP00000329178.6:p.Ile374Met
ENST00000348295.7:c.1035T>G ENSP00000329012.5:p.Ile345Met
ENST00000382580.6:c.1251T>G ENSP00000372023.2:p.Ile417Met
ENST00000402731.5:c.1035T>G ENSP00000384835.1:p.Ile345Met
ENST00000403642.5:c.849T>G ENSP00000384919.1:p.Ile283Met
ENST00000404276.5:c.1122T>G ENSP00000385747.1:p.Ile374Met
ENST00000405598.5:c.1122T>G ENSP00000386087.1:p.Ile374Met
ENST00000416671.5:c.*612T>G ENSP00000402225.1:n.*612T>G
ENST00000417588.5:c.1031T>G ENSP00000412901.1:n.1031T>G
ENST00000433728.5:c.1060T>G ENSP00000404400.1:n.1060T>G
ENST00000434810.5:c.353T>G
ENST00000448511.5:c.1012T>G ENSP00000404567.1:n.1012T>G
ENST00000456369.5:c.263+3991T>G
NM_001005735.1:c.1251T>G NP_001005735.1:p.Ile417Met
NM_001257387.1:c.459T>G NP_001244316.1:p.Ile153Met
NM_007194.3:c.1122T>G NP_009125.1:p.Ile374Met
NM_145862.2:c.1035T>G NP_665861.1:p.Ile345Met
XM_006724114.2:c.642T>G XP_006724177.1:p.Ile214Met
XM_006724116.2:c.579T>G XP_006724179.2:p.Ile193Met
XM_011529839.1:c.1281T>G XP_011528141.1:p.Ile427Met
XM_011529840.1:c.1194T>G XP_011528142.1:p.Ile398Met
XM_011529841.1:c.1050T>G XP_011528143.1:p.Ile350Met
XM_011529842.1:c.951T>G XP_011528144.1:p.Ile317Met
XM_011529843.1:c.921T>G XP_011528145.1:p.Ile307Met
XM_011529845.1:c.459T>G XP_011528147.1:p.Ile153Met
XR_937805.1:n.1281T>G
XR_937806.1:n.1189T>G
NM_001349956.1:c.921T>G NP_001336885.1:p.Ile307Met
NM_007194.4:c.1122T>G MANE Select NP_009125.1:p.Ile374Met
XM_006724114.3:c.675T>G XP_006724177.2:p.Ile225Met
XM_011529839.2:c.1281T>G XP_011528141.1:p.Ile427Met
XM_011529840.3:c.1194T>G XP_011528142.1:p.Ile398Met
XM_011529842.2:c.951T>G XP_011528144.1:p.Ile317Met
XM_011529845.2:c.459T>G XP_011528147.1:p.Ile153Met
XM_017028560.1:c.1245T>G XP_016884049.1:p.Ile415Met
XM_017028561.2:c.459T>G XP_016884050.1:p.Ile153Met
XM_024452148.1:c.1152T>G XP_024307916.1:p.Ile384Met
XM_024452149.1:c.1065T>G XP_024307917.1:p.Ile355Met
XR_937805.2:n.1292T>G
XR_937806.2:n.1205T>G
NM_001005735.2:c.1251T>G NP_001005735.1:p.Ile417Met
NM_001257387.2:c.459T>G NP_001244316.1:p.Ile153Met
NM_001349956.2:c.921T>G NP_001336885.1:p.Ile307Met