Canonical Allele Identifier: CA1752433750
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950463_150950464delinsAC , CM000669.2:g.150950463_150950464delinsAC GRCh38
NC_000007.13:g.150647551_150647552delinsAC , CM000669.1:g.150647551_150647552delinsAC GRCh37
NC_000007.12:g.150278484_150278485delinsAC NCBI36
NG_008916.1:g.32463_32464delinsGT , LRG_288:g.32463_32464delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1444-44_1444-43delinsGT
ENST00000684241.1:n.2979-44_2979-43delinsGT
ENST00000262186.10:c.2146-44_2146-43delinsGT MANE Select ENSP00000262186.5:n.2146-44_2146-43delinsGT
ENST00000330883.9:c.1126-44_1126-43delinsGT ENSP00000328531.4:n.1126-44_1126-43delinsGT
ENST00000262186.9:c.2146-44_2146-43delinsGT ENSP00000262186.5:n.2146-44_2146-43delinsGT
ENST00000330883.8:c.1126-44_1126-43delinsGT ENSP00000328531.4:n.1126-44_1126-43delinsGT
ENST00000430723.4:c.1798-44_1798-43delinsGT ENSP00000387657.4:n.1798-44_1798-43delinsGT
ENST00000461280.1:n.1433-44_1433-43delinsGT
ENST00000473610.5:n.1778-44_1778-43delinsGT
ENST00000532957.5:n.2369-44_2369-43delinsGT
NM_000238.3:c.2146-44_2146-43delinsGT , LRG_288t1:c.2146-44_2146-43delinsGT NP_000229.1:n.2146-44_2146-43delinsGT
NM_001204798.1:c.1126-44_1126-43delinsGT NP_001191727.1:n.1126-44_1126-43delinsGT
NM_172056.2:c.2146-44_2146-43delinsGT , LRG_288t2:c.2146-44_2146-43delinsGT NP_742053.1:n.2146-44_2146-43delinsGT
NM_172057.2:c.1126-44_1126-43delinsGT , LRG_288t3:c.1126-44_1126-43delinsGT NP_742054.1:n.1126-44_1126-43delinsGT
XM_011516185.1:c.1846-44_1846-43delinsGT XP_011514487.1:n.1846-44_1846-43delinsGT
XM_011516186.1:c.2146-44_2146-43delinsGT XP_011514488.1:n.2146-44_2146-43delinsGT
XM_011516185.2:c.1846-44_1846-43delinsGT XP_011514487.1:n.1846-44_1846-43delinsGT
XM_011516186.3:c.2146-44_2146-43delinsGT XP_011514488.1:n.2146-44_2146-43delinsGT
XM_017012195.1:c.1996-44_1996-43delinsGT XP_016867684.1:n.1996-44_1996-43delinsGT
XM_017012196.1:c.1969-44_1969-43delinsGT XP_016867685.1:n.1969-44_1969-43delinsGT
NM_000238.4:c.2146-44_2146-43delinsGT MANE Select NP_000229.1:n.2146-44_2146-43delinsGT
NM_001204798.2:c.1126-44_1126-43delinsGT NP_001191727.1:n.1126-44_1126-43delinsGT
NM_172057.3:c.1126-44_1126-43delinsGT NP_742054.1:n.1126-44_1126-43delinsGT