Canonical Allele Identifier: CA1752432860
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950010C= , CM000669.2:g.150950010C= GRCh38
NC_000007.13:g.150647098C= , CM000669.1:g.150647098C= GRCh37
NC_000007.12:g.150278031C= NCBI36
NG_008916.1:g.32917G= , LRG_288:g.32917G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1854G=
ENST00000684241.1:n.3231+158G=
ENST00000262186.10:c.2398+158G= MANE Select ENSP00000262186.5:n.2398+158G=
ENST00000330883.9:c.1378+158G= ENSP00000328531.4:n.1378+158G=
ENST00000262186.9:c.2398+158G= ENSP00000262186.5:n.2398+158G=
ENST00000330883.8:c.1378+158G= ENSP00000328531.4:n.1378+158G=
ENST00000430723.4:c.2208G= ENSP00000387657.4:p.Gly736=
ENST00000461280.1:n.1843G=
ENST00000473610.5:n.2188G=
ENST00000532957.5:n.2779G=
NM_000238.3:c.2398+158G= , LRG_288t1:c.2398+158G= NP_000229.1:n.2398+158G=
NM_001204798.1:c.1536G= NP_001191727.1:p.Gly512=
NM_172056.2:c.2556G= , LRG_288t2:c.2556G= NP_742053.1:p.Gly852=
NM_172057.2:c.1378+158G= , LRG_288t3:c.1378+158G= NP_742054.1:n.1378+158G=
XM_011516185.1:c.2098+158G= XP_011514487.1:n.2098+158G=
XM_011516186.1:c.2398+158G= XP_011514488.1:n.2398+158G=
XM_011516185.2:c.2098+158G= XP_011514487.1:n.2098+158G=
XM_011516186.3:c.2398+158G= XP_011514488.1:n.2398+158G=
XM_017012195.1:c.2248+158G= XP_016867684.1:n.2248+158G=
XM_017012196.1:c.2221+158G= XP_016867685.1:n.2221+158G=
NM_000238.4:c.2398+158G= MANE Select NP_000229.1:n.2398+158G=
NM_001204798.2:c.1536G= NP_001191727.1:p.Gly512=
NM_172057.3:c.1378+158G= NP_742054.1:n.1378+158G=