LDH info

Canonical Allele Identifier: CA369856075
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950222T>A , CM000669.2:g.150950222T>A GRCh38
NC_000007.13:g.150647310T>A , CM000669.1:g.150647310T>A GRCh37
NC_000007.12:g.150278243T>A NCBI36
NG_008916.1:g.32705A>T , LRG_288:g.32705A>T

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2344A>T , LRG_288t1:c.2344A>T NP_000229.1:p.Ile782Phe
NM_001204798.1:c.1324A>T VV NP_001191727.1:p.Ile442Phe
NM_172056.2:c.2344A>T , LRG_288t2:c.2344A>T NP_742053.1:p.Ile782Phe
NM_172057.2:c.1324A>T , LRG_288t3:c.1324A>T NP_742054.1:p.Ile442Phe
XM_011516185.1:c.2044A>T XP_011514487.1:p.Ile682Phe
XM_011516186.1:c.2344A>T XP_011514488.1:p.Ile782Phe
XM_011516185.2:c.2044A>T XP_011514487.1:p.Ile682Phe
XM_011516186.3:c.2344A>T XP_011514488.1:p.Ile782Phe
XM_017012195.1:c.2194A>T XP_016867684.1:p.Ile732Phe
XM_017012196.1:c.2167A>T XP_016867685.1:p.Ile723Phe
NM_000238.4:c.2344A>T VV MANE Preferred NP_000229.1:p.Ile782Phe
NM_001204798.2:c.1324A>T VV NP_001191727.1:p.Ile442Phe
ENST00000262186.9:c.2344A>T ENSP00000262186.5:p.Ile782Phe
ENST00000330883.8:c.1324A>T ENSP00000328531.4:p.Ile442Phe
ENST00000430723.4:c.1996A>T ENSP00000387657.4:p.Ile666Phe
ENST00000461280.1:n.1631A>T
ENST00000473610.5:n.1976A>T
ENST00000532957.5:n.2567A>T