LDH info

Canonical Allele Identifier: CA369856071
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950221A>C , CM000669.2:g.150950221A>C GRCh38
NC_000007.13:g.150647309A>C , CM000669.1:g.150647309A>C GRCh37
NC_000007.12:g.150278242A>C NCBI36
NG_008916.1:g.32706T>G , LRG_288:g.32706T>G

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2345T>G , LRG_288t1:c.2345T>G NP_000229.1:p.Ile782Ser
NM_001204798.1:c.1325T>G VV NP_001191727.1:p.Ile442Ser
NM_172056.2:c.2345T>G , LRG_288t2:c.2345T>G NP_742053.1:p.Ile782Ser
NM_172057.2:c.1325T>G , LRG_288t3:c.1325T>G NP_742054.1:p.Ile442Ser
XM_011516185.1:c.2045T>G XP_011514487.1:p.Ile682Ser
XM_011516186.1:c.2345T>G XP_011514488.1:p.Ile782Ser
XM_011516185.2:c.2045T>G XP_011514487.1:p.Ile682Ser
XM_011516186.3:c.2345T>G XP_011514488.1:p.Ile782Ser
XM_017012195.1:c.2195T>G XP_016867684.1:p.Ile732Ser
XM_017012196.1:c.2168T>G XP_016867685.1:p.Ile723Ser
NM_000238.4:c.2345T>G VV MANE Preferred NP_000229.1:p.Ile782Ser
NM_001204798.2:c.1325T>G VV NP_001191727.1:p.Ile442Ser
ENST00000262186.9:c.2345T>G ENSP00000262186.5:p.Ile782Ser
ENST00000330883.8:c.1325T>G ENSP00000328531.4:p.Ile442Ser
ENST00000430723.4:c.1997T>G ENSP00000387657.4:p.Ile666Ser
ENST00000461280.1:n.1632T>G
ENST00000473610.5:n.1977T>G
ENST00000532957.5:n.2568T>G