LDH info

Canonical Allele Identifier: CA369856065
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950218G>T , CM000669.2:g.150950218G>T GRCh38
NC_000007.13:g.150647306G>T , CM000669.1:g.150647306G>T GRCh37
NC_000007.12:g.150278239G>T NCBI36
NG_008916.1:g.32709C>A , LRG_288:g.32709C>A

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2348C>A , LRG_288t1:c.2348C>A NP_000229.1:p.Ser783Tyr
NM_001204798.1:c.1328C>A VV NP_001191727.1:p.Ser443Tyr
NM_172056.2:c.2348C>A , LRG_288t2:c.2348C>A NP_742053.1:p.Ser783Tyr
NM_172057.2:c.1328C>A , LRG_288t3:c.1328C>A NP_742054.1:p.Ser443Tyr
XM_011516185.1:c.2048C>A XP_011514487.1:p.Ser683Tyr
XM_011516186.1:c.2348C>A XP_011514488.1:p.Ser783Tyr
XM_011516185.2:c.2048C>A XP_011514487.1:p.Ser683Tyr
XM_011516186.3:c.2348C>A XP_011514488.1:p.Ser783Tyr
XM_017012195.1:c.2198C>A XP_016867684.1:p.Ser733Tyr
XM_017012196.1:c.2171C>A XP_016867685.1:p.Ser724Tyr
NM_000238.4:c.2348C>A VV MANE Preferred NP_000229.1:p.Ser783Tyr
NM_001204798.2:c.1328C>A VV NP_001191727.1:p.Ser443Tyr
ENST00000262186.9:c.2348C>A ENSP00000262186.5:p.Ser783Tyr
ENST00000330883.8:c.1328C>A ENSP00000328531.4:p.Ser443Tyr
ENST00000430723.4:c.2000C>A ENSP00000387657.4:p.Ser667Tyr
ENST00000461280.1:n.1635C>A
ENST00000473610.5:n.1980C>A
ENST00000532957.5:n.2571C>A