LDH info

Canonical Allele Identifier: CA16042190
Gene: CHEK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371957
ClinVar RCV Id: RCV000409709
dbSNP Id: rs1057517596

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28699938del , CM000684.2:g.28699938del GRCh38
NC_000022.10:g.29095926del , CM000684.1:g.29095926del GRCh37
NC_000022.9:g.27425926del NCBI36
NG_008150.1:g.46898del
NG_008150.2:g.46930del

Transcript Alleles

HGVS Amino-acid change
NM_001005735.1:c.1038del VV
NM_001257387.1:c.246del VV
NM_007194.3:c.909del VV
NM_145862.2:c.909del VV
XM_006724114.2:c.429del
XM_006724116.2:c.366del
XM_011529839.1:n.1068del
XM_011529840.1:c.1068del
XM_011529841.1:c.837del
XM_011529842.1:n.738del
XM_011529843.1:c.708del
XM_011529844.1:c.1068del
XM_011529845.1:c.246del
XR_937805.1:n.1068del
XR_937806.1:n.1063del
XR_937807.1:n.1063del
NM_001349956.1:c.708del VV
NM_007194.4:c.909del VV MANE Preferred
XM_006724114.3:c.462del
XM_011529839.2:c.1068del
XM_011529840.3:c.1068del
XM_011529842.2:c.738del
XM_011529844.2:c.1068del
XM_011529845.2:c.246del
XM_017028560.1:c.1032del
XM_017028561.2:c.246del
XM_024452148.1:c.939del
XM_024452149.1:c.939del
XR_937805.2:n.1079del
XR_937806.2:n.1079del
XR_937807.2:n.1079del
ENST00000328354.10:c.909del
ENST00000348295.7:c.909del
ENST00000382580.6:c.1038del
ENST00000402731.5:n.909del
ENST00000403642.5:n.636del
ENST00000404276.5:n.909del
ENST00000405598.5:c.909del
ENST00000416671.5:c.*399del
ENST00000417588.5:n.818del
ENST00000425190.6:c.246del
ENST00000433028.6:c.*634del
ENST00000433728.5:n.847del
ENST00000434810.5:n.140del
ENST00000439346.5:n.380del
ENST00000447421.5:c.708del
ENST00000448511.5:n.799del
ENST00000456369.5:n.164del
ENST00000464581.5:c.249del
ENST00000491919.5:n.466del