LDH info

Canonical Allele Identifier: CA369856085
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2339A>C , LRG_288t1:c.2339A>C NP_000229.1:p.Tyr780Ser
NM_001204798.1:c.1319A>C VV NP_001191727.1:p.Tyr440Ser
NM_172056.2:c.2339A>C , LRG_288t2:c.2339A>C NP_742053.1:p.Tyr780Ser
NM_172057.2:c.1319A>C , LRG_288t3:c.1319A>C NP_742054.1:p.Tyr440Ser
XM_011516185.1:c.2039A>C XP_011514487.1:p.Tyr680Ser
XM_011516186.1:c.2339A>C XP_011514488.1:p.Tyr780Ser
XM_011516185.2:c.2039A>C XP_011514487.1:p.Tyr680Ser
XM_011516186.3:c.2339A>C XP_011514488.1:p.Tyr780Ser
XM_017012195.1:c.2189A>C XP_016867684.1:p.Tyr730Ser
XM_017012196.1:c.2162A>C XP_016867685.1:p.Tyr721Ser
NM_000238.4:c.2339A>C VV MANE Preferred NP_000229.1:p.Tyr780Ser
NM_001204798.2:c.1319A>C VV NP_001191727.1:p.Tyr440Ser
ENST00000262186.9:c.2339A>C ENSP00000262186.5:p.Tyr780Ser
ENST00000330883.8:c.1319A>C ENSP00000328531.4:p.Tyr440Ser
ENST00000430723.4:c.1991A>C ENSP00000387657.4:p.Tyr664Ser
ENST00000461280.1:n.1626A>C
ENST00000473610.5:n.1971A>C
ENST00000532957.5:n.2562A>C