Canonical Allele Identifier: CA458645580
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150951707G>A , CM000669.2:g.150951707G>A GRCh38
NC_000007.13:g.150648795G>A , CM000669.1:g.150648795G>A GRCh37
NC_000007.12:g.150279728G>A NCBI36
NG_008916.1:g.31220C>T , LRG_288:g.31220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.984C>T
ENST00000684241.1:n.2519C>T
ENST00000262186.10:c.1686C>T MANE Select ENSP00000262186.5:p.His562=
ENST00000330883.9:c.666C>T ENSP00000328531.4:p.His222=
ENST00000262186.9:c.1686C>T ENSP00000262186.5:p.His562=
ENST00000330883.8:c.666C>T ENSP00000328531.4:p.His222=
ENST00000430723.4:c.1338C>T ENSP00000387657.4:p.His446=
ENST00000461280.1:n.973C>T
ENST00000473610.5:n.991C>T
ENST00000532957.5:n.1909C>T
NM_000238.3:c.1686C>T , LRG_288t1:c.1686C>T NP_000229.1:p.His562=
NM_001204798.1:c.666C>T NP_001191727.1:p.His222=
NM_172056.2:c.1686C>T , LRG_288t2:c.1686C>T NP_742053.1:p.His562=
NM_172057.2:c.666C>T , LRG_288t3:c.666C>T NP_742054.1:p.His222=
XM_011516185.1:c.1386C>T XP_011514487.1:p.His462=
XM_011516186.1:c.1686C>T XP_011514488.1:p.His562=
XM_011516185.2:c.1386C>T XP_011514487.1:p.His462=
XM_011516186.3:c.1686C>T XP_011514488.1:p.His562=
XM_017012195.1:c.1536C>T XP_016867684.1:p.His512=
XM_017012196.1:c.1509C>T XP_016867685.1:p.His503=
NM_000238.4:c.1686C>T MANE Select NP_000229.1:p.His562=
NM_001204798.2:c.666C>T NP_001191727.1:p.His222=
NM_172057.3:c.666C>T NP_742054.1:p.His222=