LDH info

Canonical Allele Identifier: CA288254
Gene: CHEK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 128044
dbSNP Id: rs531398630

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28695858G>A , CM000684.2:g.28695858G>A GRCh38
NC_000022.10:g.29091846G>A , CM000684.1:g.29091846G>A GRCh37
NC_000022.9:g.27421846G>A NCBI36
NG_008150.1:g.50977C>T
NG_008150.2:g.51009C>T

Transcript Alleles

HGVS Amino-acid change
NM_001005735.1:c.1240C>T VV NP_001005735.1:p.His414Tyr
NM_001257387.1:c.448C>T VV NP_001244316.1:p.His150Tyr
NM_007194.3:c.1111C>T VV NP_009125.1:p.His371Tyr
NM_145862.2:c.1024C>T VV NP_665861.1:p.His342Tyr
XM_006724114.2:c.631C>T XP_006724177.1:p.His211Tyr
XM_006724116.2:c.568C>T XP_006724179.2:p.His190Tyr
XM_011529839.1:n.1270C>T XP_011528141.1:p.His424Tyr
XM_011529840.1:c.1183C>T XP_011528142.1:p.His395Tyr
XM_011529841.1:c.1039C>T XP_011528143.1:p.His347Tyr
XM_011529842.1:n.940C>T XP_011528144.1:p.His314Tyr
XM_011529843.1:c.910C>T XP_011528145.1:p.His304Tyr
XM_011529845.1:c.448C>T XP_011528147.1:p.His150Tyr
XR_937805.1:n.1270C>T
XR_937806.1:n.1178C>T
NM_001349956.1:c.910C>T VV NP_001336885.1:p.His304Tyr
NM_007194.4:c.1111C>T VV MANE Preferred NP_009125.1:p.His371Tyr
XM_006724114.3:c.664C>T XP_006724177.2:p.His222Tyr
XM_011529839.2:c.1270C>T XP_011528141.1:p.His424Tyr
XM_011529840.3:c.1183C>T XP_011528142.1:p.His395Tyr
XM_011529842.2:c.940C>T XP_011528144.1:p.His314Tyr
XM_011529845.2:c.448C>T XP_011528147.1:p.His150Tyr
XM_017028560.1:c.1234C>T XP_016884049.1:p.His412Tyr
XM_017028561.2:c.448C>T XP_016884050.1:p.His150Tyr
XM_024452148.1:c.1141C>T XP_024307916.1:p.His381Tyr
XM_024452149.1:c.1054C>T XP_024307917.1:p.His352Tyr
XR_937805.2:n.1281C>T
XR_937806.2:n.1194C>T
NM_001005735.2:c.1240C>T VV NP_001005735.1:p.His414Tyr
NM_001257387.2:c.448C>T VV NP_001244316.1:p.His150Tyr
NM_001349956.2:c.910C>T VV NP_001336885.1:p.His304Tyr
ENST00000328354.10:c.1111C>T ENSP00000329178.6:p.His371Tyr
ENST00000348295.7:c.1024C>T ENSP00000329012.5:p.His342Tyr
ENST00000382580.6:c.1240C>T ENSP00000372023.2:p.His414Tyr
ENST00000402731.5:n.1024C>T ENSP00000384835.1:p.His342Tyr
ENST00000403642.5:n.838C>T ENSP00000384919.1:p.His280Tyr
ENST00000404276.5:n.1111C>T ENSP00000385747.1:p.His371Tyr
ENST00000405598.5:c.1111C>T ENSP00000386087.1:p.His371Tyr
ENST00000416671.5:c.*601C>T ENSP00000402225.1:p.=
ENST00000417588.5:n.1020C>T ENSP00000412901.1:p.=
ENST00000433728.5:n.1049C>T ENSP00000404400.1:p.=
ENST00000434810.5:n.342C>T
ENST00000448511.5:n.1001C>T ENSP00000404567.1:p.=
ENST00000456369.5:n.263+3980C>T