Canonical Allele Identifier: CA411094518
Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2762610
ClinVar RCV Id: RCV003500283

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28694108A>C , CM000684.2:g.28694108A>C GRCh38
NC_000022.10:g.29090096A>C , CM000684.1:g.29090096A>C GRCh37
NC_000022.9:g.27420096A>C NCBI36
NG_008150.1:g.52727T>G
NG_008150.2:g.52759T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000711048.1:c.*120T>G ENSP00000518557.1:n.*120T>G
ENST00000402731.6:c.1184T>G ENSP00000384835.2:p.Leu395Arg
ENST00000404276.6:c.1385T>G MANE Select ENSP00000385747.1:p.Leu462Arg
ENST00000425190.7:c.722T>G ENSP00000390244.2:p.Leu241Arg
ENST00000464581.6:c.725T>G ENSP00000483777.2:p.Leu242Arg
ENST00000648295.1:n.937T>G
ENST00000649563.1:c.722T>G ENSP00000496928.1:p.Leu241Arg
ENST00000650281.1:c.1385T>G ENSP00000497000.1:p.Leu462Arg
ENST00000328354.10:c.1385T>G ENSP00000329178.6:p.Leu462Arg
ENST00000348295.7:c.1298T>G ENSP00000329012.5:p.Leu433Arg
ENST00000382580.6:c.1514T>G ENSP00000372023.2:p.Leu505Arg
ENST00000402731.5:c.1298T>G ENSP00000384835.1:p.Leu433Arg
ENST00000403642.5:c.1112T>G ENSP00000384919.1:p.Leu371Arg
ENST00000404276.5:c.1385T>G ENSP00000385747.1:p.Leu462Arg
ENST00000405598.5:c.1385T>G ENSP00000386087.1:p.Leu462Arg
ENST00000416671.5:c.*875T>G ENSP00000402225.1:n.*875T>G
ENST00000417588.5:c.1294T>G ENSP00000412901.1:n.1294T>G
ENST00000433728.5:c.1323T>G ENSP00000404400.1:n.1323T>G
ENST00000434810.5:c.583T>G
ENST00000448511.5:c.1275T>G ENSP00000404567.1:n.1275T>G
ENST00000456369.5:c.264-4893T>G
NM_001005735.1:c.1514T>G NP_001005735.1:p.Leu505Arg
NM_001257387.1:c.722T>G NP_001244316.1:p.Leu241Arg
NM_007194.3:c.1385T>G NP_009125.1:p.Leu462Arg
NM_145862.2:c.1298T>G NP_665861.1:p.Leu433Arg
XM_006724114.2:c.905T>G XP_006724177.1:p.Leu302Arg
XM_006724116.2:c.842T>G XP_006724179.2:p.Leu281Arg
XM_011529839.1:c.1544T>G XP_011528141.1:p.Leu515Arg
XM_011529840.1:c.1457T>G XP_011528142.1:p.Leu486Arg
XM_011529841.1:c.1313T>G XP_011528143.1:p.Leu438Arg
XM_011529842.1:c.1214T>G XP_011528144.1:p.Leu405Arg
XM_011529843.1:c.1184T>G XP_011528145.1:p.Leu395Arg
XM_011529845.1:c.722T>G XP_011528147.1:p.Leu241Arg
XR_937805.1:n.1544T>G
NM_001349956.1:c.1184T>G NP_001336885.1:p.Leu395Arg
NM_007194.4:c.1385T>G MANE Select NP_009125.1:p.Leu462Arg
XM_006724114.3:c.938T>G XP_006724177.2:p.Leu313Arg
XM_011529839.2:c.1544T>G XP_011528141.1:p.Leu515Arg
XM_011529840.3:c.1457T>G XP_011528142.1:p.Leu486Arg
XM_011529842.2:c.1214T>G XP_011528144.1:p.Leu405Arg
XM_011529845.2:c.722T>G XP_011528147.1:p.Leu241Arg
XM_017028560.1:c.1508T>G XP_016884049.1:p.Leu503Arg
XM_017028561.2:c.722T>G XP_016884050.1:p.Leu241Arg
XM_024452148.1:c.1415T>G XP_024307916.1:p.Leu472Arg
XM_024452149.1:c.1328T>G XP_024307917.1:p.Leu443Arg
XR_937805.2:n.1555T>G
NM_001005735.2:c.1514T>G NP_001005735.1:p.Leu505Arg
NM_001257387.2:c.722T>G NP_001244316.1:p.Leu241Arg
NM_001349956.2:c.1184T>G NP_001336885.1:p.Leu395Arg