Canonical Allele Identifier: CA2685601781
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949994_150949995insT , CM000669.2:g.150949994_150949995insT GRCh38
NC_000007.13:g.150647082_150647083insT , CM000669.1:g.150647082_150647083insT GRCh37
NC_000007.12:g.150278015_150278016insT NCBI36
NG_008916.1:g.32932_32933insA , LRG_288:g.32932_32933insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1869_1870insA
ENST00000684241.1:n.3231+173_3231+174insA
ENST00000262186.10:c.2398+173_2398+174insA MANE Select ENSP00000262186.5:n.2398+173_2398+174insA
ENST00000330883.9:c.1378+173_1378+174insA ENSP00000328531.4:n.1378+173_1378+174insA
ENST00000262186.9:c.2398+173_2398+174insA ENSP00000262186.5:n.2398+173_2398+174insA
ENST00000330883.8:c.1378+173_1378+174insA ENSP00000328531.4:n.1378+173_1378+174insA
ENST00000430723.4:c.2223_2224insA ENSP00000387657.4:p.Pro742ThrfsTer5
ENST00000461280.1:n.1858_1859insA
ENST00000473610.5:n.2203_2204insA
ENST00000532957.5:n.2794_2795insA
NM_000238.3:c.2398+173_2398+174insA , LRG_288t1:c.2398+173_2398+174insA NP_000229.1:n.2398+173_2398+174insA
NM_001204798.1:c.1551_1552insA NP_001191727.1:p.Pro518ThrfsTer5
NM_172056.2:c.2571_2572insA , LRG_288t2:c.2571_2572insA NP_742053.1:p.Pro858ThrfsTer5
NM_172057.2:c.1378+173_1378+174insA , LRG_288t3:c.1378+173_1378+174insA NP_742054.1:n.1378+173_1378+174insA
XM_011516185.1:c.2098+173_2098+174insA XP_011514487.1:n.2098+173_2098+174insA
XM_011516186.1:c.2398+173_2398+174insA XP_011514488.1:n.2398+173_2398+174insA
XM_011516185.2:c.2098+173_2098+174insA XP_011514487.1:n.2098+173_2098+174insA
XM_011516186.3:c.2398+173_2398+174insA XP_011514488.1:n.2398+173_2398+174insA
XM_017012195.1:c.2248+173_2248+174insA XP_016867684.1:n.2248+173_2248+174insA
XM_017012196.1:c.2221+173_2221+174insA XP_016867685.1:n.2221+173_2221+174insA
NM_000238.4:c.2398+173_2398+174insA MANE Select NP_000229.1:n.2398+173_2398+174insA
NM_001204798.2:c.1551_1552insA NP_001191727.1:p.Pro518ThrfsTer5
NM_172057.3:c.1378+173_1378+174insA NP_742054.1:n.1378+173_1378+174insA