LDH info

Canonical Allele Identifier: CA369856068
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950219A>T , CM000669.2:g.150950219A>T GRCh38
NC_000007.13:g.150647307A>T , CM000669.1:g.150647307A>T GRCh37
NC_000007.12:g.150278240A>T NCBI36
NG_008916.1:g.32708T>A , LRG_288:g.32708T>A

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2347T>A , LRG_288t1:c.2347T>A NP_000229.1:p.Ser783Thr
NM_001204798.1:c.1327T>A VV NP_001191727.1:p.Ser443Thr
NM_172056.2:c.2347T>A , LRG_288t2:c.2347T>A NP_742053.1:p.Ser783Thr
NM_172057.2:c.1327T>A , LRG_288t3:c.1327T>A NP_742054.1:p.Ser443Thr
XM_011516185.1:c.2047T>A XP_011514487.1:p.Ser683Thr
XM_011516186.1:c.2347T>A XP_011514488.1:p.Ser783Thr
XM_011516185.2:c.2047T>A XP_011514487.1:p.Ser683Thr
XM_011516186.3:c.2347T>A XP_011514488.1:p.Ser783Thr
XM_017012195.1:c.2197T>A XP_016867684.1:p.Ser733Thr
XM_017012196.1:c.2170T>A XP_016867685.1:p.Ser724Thr
NM_000238.4:c.2347T>A VV MANE Preferred NP_000229.1:p.Ser783Thr
NM_001204798.2:c.1327T>A VV NP_001191727.1:p.Ser443Thr
ENST00000262186.9:c.2347T>A ENSP00000262186.5:p.Ser783Thr
ENST00000330883.8:c.1327T>A ENSP00000328531.4:p.Ser443Thr
ENST00000430723.4:c.1999T>A ENSP00000387657.4:p.Ser667Thr
ENST00000461280.1:n.1634T>A
ENST00000473610.5:n.1979T>A
ENST00000532957.5:n.2570T>A