LDH info

Canonical Allele Identifier: CA369856092
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950230A>G , CM000669.2:g.150950230A>G GRCh38
NC_000007.13:g.150647318A>G , CM000669.1:g.150647318A>G GRCh37
NC_000007.12:g.150278251A>G NCBI36
NG_008916.1:g.32697T>C , LRG_288:g.32697T>C

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2336T>C , LRG_288t1:c.2336T>C NP_000229.1:p.Leu779Pro
NM_001204798.1:c.1316T>C VV NP_001191727.1:p.Leu439Pro
NM_172056.2:c.2336T>C , LRG_288t2:c.2336T>C NP_742053.1:p.Leu779Pro
NM_172057.2:c.1316T>C , LRG_288t3:c.1316T>C NP_742054.1:p.Leu439Pro
XM_011516185.1:c.2036T>C XP_011514487.1:p.Leu679Pro
XM_011516186.1:c.2336T>C XP_011514488.1:p.Leu779Pro
XM_011516185.2:c.2036T>C XP_011514487.1:p.Leu679Pro
XM_011516186.3:c.2336T>C XP_011514488.1:p.Leu779Pro
XM_017012195.1:c.2186T>C XP_016867684.1:p.Leu729Pro
XM_017012196.1:c.2159T>C XP_016867685.1:p.Leu720Pro
NM_000238.4:c.2336T>C VV MANE Preferred NP_000229.1:p.Leu779Pro
NM_001204798.2:c.1316T>C VV NP_001191727.1:p.Leu439Pro
ENST00000262186.9:c.2336T>C ENSP00000262186.5:p.Leu779Pro
ENST00000330883.8:c.1316T>C ENSP00000328531.4:p.Leu439Pro
ENST00000430723.4:c.1988T>C ENSP00000387657.4:p.Leu663Pro
ENST00000461280.1:n.1623T>C
ENST00000473610.5:n.1968T>C
ENST00000532957.5:n.2559T>C