Canonical Allele Identifier: CA1752432886
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950019A= , CM000669.2:g.150950019A= GRCh38
NC_000007.13:g.150647107A= , CM000669.1:g.150647107A= GRCh37
NC_000007.12:g.150278040A= NCBI36
NG_008916.1:g.32908T= , LRG_288:g.32908T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1845T=
ENST00000684241.1:n.3231+149T=
ENST00000262186.10:c.2398+149T= MANE Select ENSP00000262186.5:n.2398+149T=
ENST00000330883.9:c.1378+149T= ENSP00000328531.4:n.1378+149T=
ENST00000262186.9:c.2398+149T= ENSP00000262186.5:n.2398+149T=
ENST00000330883.8:c.1378+149T= ENSP00000328531.4:n.1378+149T=
ENST00000430723.4:c.2199T= ENSP00000387657.4:p.Pro733=
ENST00000461280.1:n.1834T=
ENST00000473610.5:n.2179T=
ENST00000532957.5:n.2770T=
NM_000238.3:c.2398+149T= , LRG_288t1:c.2398+149T= NP_000229.1:n.2398+149T=
NM_001204798.1:c.1527T= NP_001191727.1:p.Pro509=
NM_172056.2:c.2547T= , LRG_288t2:c.2547T= NP_742053.1:p.Pro849=
NM_172057.2:c.1378+149T= , LRG_288t3:c.1378+149T= NP_742054.1:n.1378+149T=
XM_011516185.1:c.2098+149T= XP_011514487.1:n.2098+149T=
XM_011516186.1:c.2398+149T= XP_011514488.1:n.2398+149T=
XM_011516185.2:c.2098+149T= XP_011514487.1:n.2098+149T=
XM_011516186.3:c.2398+149T= XP_011514488.1:n.2398+149T=
XM_017012195.1:c.2248+149T= XP_016867684.1:n.2248+149T=
XM_017012196.1:c.2221+149T= XP_016867685.1:n.2221+149T=
NM_000238.4:c.2398+149T= MANE Select NP_000229.1:n.2398+149T=
NM_001204798.2:c.1527T= NP_001191727.1:p.Pro509=
NM_172057.3:c.1378+149T= NP_742054.1:n.1378+149T=