LDH info

Canonical Allele Identifier: CA369856086
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950227T>A , CM000669.2:g.150950227T>A GRCh38
NC_000007.13:g.150647315T>A , CM000669.1:g.150647315T>A GRCh37
NC_000007.12:g.150278248T>A NCBI36
NG_008916.1:g.32700A>T , LRG_288:g.32700A>T

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2339A>T , LRG_288t1:c.2339A>T NP_000229.1:p.Tyr780Phe
NM_001204798.1:c.1319A>T VV NP_001191727.1:p.Tyr440Phe
NM_172056.2:c.2339A>T , LRG_288t2:c.2339A>T NP_742053.1:p.Tyr780Phe
NM_172057.2:c.1319A>T , LRG_288t3:c.1319A>T NP_742054.1:p.Tyr440Phe
XM_011516185.1:c.2039A>T XP_011514487.1:p.Tyr680Phe
XM_011516186.1:c.2339A>T XP_011514488.1:p.Tyr780Phe
XM_011516185.2:c.2039A>T XP_011514487.1:p.Tyr680Phe
XM_011516186.3:c.2339A>T XP_011514488.1:p.Tyr780Phe
XM_017012195.1:c.2189A>T XP_016867684.1:p.Tyr730Phe
XM_017012196.1:c.2162A>T XP_016867685.1:p.Tyr721Phe
NM_000238.4:c.2339A>T VV MANE Preferred NP_000229.1:p.Tyr780Phe
NM_001204798.2:c.1319A>T VV NP_001191727.1:p.Tyr440Phe
ENST00000262186.9:c.2339A>T ENSP00000262186.5:p.Tyr780Phe
ENST00000330883.8:c.1319A>T ENSP00000328531.4:p.Tyr440Phe
ENST00000430723.4:c.1991A>T ENSP00000387657.4:p.Tyr664Phe
ENST00000461280.1:n.1626A>T
ENST00000473610.5:n.1971A>T
ENST00000532957.5:n.2562A>T