LDH info

Canonical Allele Identifier: CA288282
Gene: CHEK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 128060
dbSNP Id: rs142763740

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28694066G>A , CM000684.2:g.28694066G>A GRCh38
NC_000022.10:g.29090054G>A , CM000684.1:g.29090054G>A GRCh37
NC_000022.9:g.27420054G>A NCBI36
NG_008150.1:g.52769C>T
NG_008150.2:g.52801C>T

Transcript Alleles

HGVS Amino-acid change
NM_001005735.1:c.1556C>T VV NP_001005735.1:p.Thr519Met
NM_001257387.1:c.764C>T VV NP_001244316.1:p.Thr255Met
NM_007194.3:c.1427C>T VV NP_009125.1:p.Thr476Met
NM_145862.2:c.1340C>T VV NP_665861.1:p.Thr447Met
XM_006724114.2:c.947C>T XP_006724177.1:p.Thr316Met
XM_006724116.2:c.884C>T XP_006724179.2:p.Thr295Met
XM_011529839.1:n.1586C>T XP_011528141.1:p.Thr529Met
XM_011529840.1:c.1499C>T XP_011528142.1:p.Thr500Met
XM_011529841.1:c.1355C>T XP_011528143.1:p.Thr452Met
XM_011529842.1:n.1256C>T XP_011528144.1:p.Thr419Met
XM_011529843.1:c.1226C>T XP_011528145.1:p.Thr409Met
XM_011529845.1:c.764C>T XP_011528147.1:p.Thr255Met
XR_937805.1:n.1586C>T
NM_001349956.1:c.1226C>T VV NP_001336885.1:p.Thr409Met
NM_007194.4:c.1427C>T VV MANE Preferred NP_009125.1:p.Thr476Met
XM_006724114.3:c.980C>T XP_006724177.2:p.Thr327Met
XM_011529839.2:c.1586C>T XP_011528141.1:p.Thr529Met
XM_011529840.3:c.1499C>T XP_011528142.1:p.Thr500Met
XM_011529842.2:c.1256C>T XP_011528144.1:p.Thr419Met
XM_011529845.2:c.764C>T XP_011528147.1:p.Thr255Met
XM_017028560.1:c.1550C>T XP_016884049.1:p.Thr517Met
XM_017028561.2:c.764C>T XP_016884050.1:p.Thr255Met
XM_024452148.1:c.1457C>T XP_024307916.1:p.Thr486Met
XM_024452149.1:c.1370C>T XP_024307917.1:p.Thr457Met
XR_937805.2:n.1597C>T
NM_001005735.2:c.1556C>T VV NP_001005735.1:p.Thr519Met
NM_001257387.2:c.764C>T VV NP_001244316.1:p.Thr255Met
NM_001349956.2:c.1226C>T VV NP_001336885.1:p.Thr409Met
ENST00000328354.10:c.1427C>T ENSP00000329178.6:p.Thr476Met
ENST00000348295.7:c.1340C>T ENSP00000329012.5:p.Thr447Met
ENST00000382580.6:c.1556C>T ENSP00000372023.2:p.Thr519Met
ENST00000402731.5:n.1340C>T ENSP00000384835.1:p.Thr447Met
ENST00000403642.5:n.1154C>T ENSP00000384919.1:p.Thr385Met
ENST00000404276.5:n.1427C>T ENSP00000385747.1:p.Thr476Met
ENST00000405598.5:c.1427C>T ENSP00000386087.1:p.Thr476Met
ENST00000416671.5:c.*917C>T ENSP00000402225.1:p.=
ENST00000417588.5:n.1336C>T ENSP00000412901.1:p.=
ENST00000433728.5:n.1365C>T ENSP00000404400.1:p.=
ENST00000434810.5:n.625C>T
ENST00000448511.5:n.1317C>T ENSP00000404567.1:p.=
ENST00000456369.5:n.264-4851C>T