Canonical Allele Identifier: CA1752432689
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949862_150949863delinsTC , CM000669.2:g.150949862_150949863delinsTC GRCh38
NC_000007.13:g.150646950_150646951delinsTC , CM000669.1:g.150646950_150646951delinsTC GRCh37
NC_000007.12:g.150277883_150277884delinsTC NCBI36
NG_008916.1:g.33064_33065delinsGA , LRG_288:g.33064_33065delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.2001_2002delinsGA
ENST00000684241.1:n.3231+305_3231+306delinsGA
ENST00000262186.10:c.2398+305_2398+306delinsGA MANE Select ENSP00000262186.5:n.2398+305_2398+306delinsGA
ENST00000330883.9:c.1378+305_1378+306delinsGA ENSP00000328531.4:n.1378+305_1378+306delinsGA
ENST00000262186.9:c.2398+305_2398+306delinsGA ENSP00000262186.5:n.2398+305_2398+306delinsGA
ENST00000330883.8:c.1378+305_1378+306delinsGA ENSP00000328531.4:n.1378+305_1378+306delinsGA
ENST00000461280.1:n.1990_1991delinsGA
ENST00000473610.5:n.2335_2336delinsGA
ENST00000532957.5:n.2926_2927delinsGA
NM_000238.3:c.2398+305_2398+306delinsGA , LRG_288t1:c.2398+305_2398+306delinsGA NP_000229.1:n.2398+305_2398+306delinsGA
NM_001204798.1:c.*36_*37delinsGA NP_001191727.1:n.*36_*37delinsGA
NM_172056.2:c.*36_*37delinsGA , LRG_288t2:c.*36_*37delinsGA NP_742053.1:n.*36_*37delinsGA
NM_172057.2:c.1378+305_1378+306delinsGA , LRG_288t3:c.1378+305_1378+306delinsGA NP_742054.1:n.1378+305_1378+306delinsGA
XM_011516185.1:c.2098+305_2098+306delinsGA XP_011514487.1:n.2098+305_2098+306delinsGA
XM_011516186.1:c.2398+305_2398+306delinsGA XP_011514488.1:n.2398+305_2398+306delinsGA
XM_011516185.2:c.2098+305_2098+306delinsGA XP_011514487.1:n.2098+305_2098+306delinsGA
XM_011516186.3:c.2398+305_2398+306delinsGA XP_011514488.1:n.2398+305_2398+306delinsGA
XM_017012195.1:c.2248+305_2248+306delinsGA XP_016867684.1:n.2248+305_2248+306delinsGA
XM_017012196.1:c.2221+305_2221+306delinsGA XP_016867685.1:n.2221+305_2221+306delinsGA
NM_000238.4:c.2398+305_2398+306delinsGA MANE Select NP_000229.1:n.2398+305_2398+306delinsGA
NM_001204798.2:c.*36_*37delinsGA NP_001191727.1:n.*36_*37delinsGA
NM_172057.3:c.1378+305_1378+306delinsGA NP_742054.1:n.1378+305_1378+306delinsGA