Canonical Allele Identifier: CA1752432862
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950012C= , CM000669.2:g.150950012C= GRCh38
NC_000007.13:g.150647100C= , CM000669.1:g.150647100C= GRCh37
NC_000007.12:g.150278033C= NCBI36
NG_008916.1:g.32915G= , LRG_288:g.32915G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1852G=
ENST00000684241.1:n.3231+156G=
ENST00000262186.10:c.2398+156G= MANE Select ENSP00000262186.5:n.2398+156G=
ENST00000330883.9:c.1378+156G= ENSP00000328531.4:n.1378+156G=
ENST00000262186.9:c.2398+156G= ENSP00000262186.5:n.2398+156G=
ENST00000330883.8:c.1378+156G= ENSP00000328531.4:n.1378+156G=
ENST00000430723.4:c.2206G= ENSP00000387657.4:p.Gly736=
ENST00000461280.1:n.1841G=
ENST00000473610.5:n.2186G=
ENST00000532957.5:n.2777G=
NM_000238.3:c.2398+156G= , LRG_288t1:c.2398+156G= NP_000229.1:n.2398+156G=
NM_001204798.1:c.1534G= NP_001191727.1:p.Gly512=
NM_172056.2:c.2554G= , LRG_288t2:c.2554G= NP_742053.1:p.Gly852=
NM_172057.2:c.1378+156G= , LRG_288t3:c.1378+156G= NP_742054.1:n.1378+156G=
XM_011516185.1:c.2098+156G= XP_011514487.1:n.2098+156G=
XM_011516186.1:c.2398+156G= XP_011514488.1:n.2398+156G=
XM_011516185.2:c.2098+156G= XP_011514487.1:n.2098+156G=
XM_011516186.3:c.2398+156G= XP_011514488.1:n.2398+156G=
XM_017012195.1:c.2248+156G= XP_016867684.1:n.2248+156G=
XM_017012196.1:c.2221+156G= XP_016867685.1:n.2221+156G=
NM_000238.4:c.2398+156G= MANE Select NP_000229.1:n.2398+156G=
NM_001204798.2:c.1534G= NP_001191727.1:p.Gly512=
NM_172057.3:c.1378+156G= NP_742054.1:n.1378+156G=