Canonical Allele Identifier: CA2778425841
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950487_150950488insAACACAC , CM000669.2:g.150950487_150950488insAACACAC GRCh38
NC_000007.13:g.150647575_150647576insAACACAC , CM000669.1:g.150647575_150647576insAACACAC GRCh37
NC_000007.12:g.150278508_150278509insAACACAC NCBI36
NG_008916.1:g.32439_32440insGTGTGTT , LRG_288:g.32439_32440insGTGTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1444-68_1444-67insGTGTGTT
ENST00000684241.1:n.2979-68_2979-67insGTGTGTT
ENST00000262186.10:c.2146-68_2146-67insGTGTGTT MANE Select ENSP00000262186.5:n.2146-68_2146-67insGTGTGTT
ENST00000330883.9:c.1126-68_1126-67insGTGTGTT ENSP00000328531.4:n.1126-68_1126-67insGTGTGTT
ENST00000262186.9:c.2146-68_2146-67insGTGTGTT ENSP00000262186.5:n.2146-68_2146-67insGTGTGTT
ENST00000330883.8:c.1126-68_1126-67insGTGTGTT ENSP00000328531.4:n.1126-68_1126-67insGTGTGTT
ENST00000430723.4:c.1798-68_1798-67insGTGTGTT ENSP00000387657.4:n.1798-68_1798-67insGTGTGTT
ENST00000461280.1:n.1433-68_1433-67insGTGTGTT
ENST00000473610.5:n.1778-68_1778-67insGTGTGTT
ENST00000532957.5:n.2369-68_2369-67insGTGTGTT
NM_000238.3:c.2146-68_2146-67insGTGTGTT , LRG_288t1:c.2146-68_2146-67insGTGTGTT NP_000229.1:n.2146-68_2146-67insGTGTGTT
NM_001204798.1:c.1126-68_1126-67insGTGTGTT NP_001191727.1:n.1126-68_1126-67insGTGTGTT
NM_172056.2:c.2146-68_2146-67insGTGTGTT , LRG_288t2:c.2146-68_2146-67insGTGTGTT NP_742053.1:n.2146-68_2146-67insGTGTGTT
NM_172057.2:c.1126-68_1126-67insGTGTGTT , LRG_288t3:c.1126-68_1126-67insGTGTGTT NP_742054.1:n.1126-68_1126-67insGTGTGTT
XM_011516185.1:c.1846-68_1846-67insGTGTGTT XP_011514487.1:n.1846-68_1846-67insGTGTGTT
XM_011516186.1:c.2146-68_2146-67insGTGTGTT XP_011514488.1:n.2146-68_2146-67insGTGTGTT
XM_011516185.2:c.1846-68_1846-67insGTGTGTT XP_011514487.1:n.1846-68_1846-67insGTGTGTT
XM_011516186.3:c.2146-68_2146-67insGTGTGTT XP_011514488.1:n.2146-68_2146-67insGTGTGTT
XM_017012195.1:c.1996-68_1996-67insGTGTGTT XP_016867684.1:n.1996-68_1996-67insGTGTGTT
XM_017012196.1:c.1969-68_1969-67insGTGTGTT XP_016867685.1:n.1969-68_1969-67insGTGTGTT
NM_000238.4:c.2146-68_2146-67insGTGTGTT MANE Select NP_000229.1:n.2146-68_2146-67insGTGTGTT
NM_001204798.2:c.1126-68_1126-67insGTGTGTT NP_001191727.1:n.1126-68_1126-67insGTGTGTT
NM_172057.3:c.1126-68_1126-67insGTGTGTT NP_742054.1:n.1126-68_1126-67insGTGTGTT