Canonical Allele Identifier: CA1752432840
Gene: KCNH2 HGNC NCBI

Linked Data

dbSNP Id: rs1801072151

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949993_150949994insC , CM000669.2:g.150949993_150949994insC GRCh38
NC_000007.13:g.150647081_150647082insC , CM000669.1:g.150647081_150647082insC GRCh37
NC_000007.12:g.150278014_150278015insC NCBI36
NG_008916.1:g.32933_32934insG , LRG_288:g.32933_32934insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1870_1871insG
ENST00000684241.1:n.3231+174_3231+175insG
ENST00000262186.10:c.2398+174_2398+175insG MANE Select ENSP00000262186.5:n.2398+174_2398+175insG
ENST00000330883.9:c.1378+174_1378+175insG ENSP00000328531.4:n.1378+174_1378+175insG
ENST00000262186.9:c.2398+174_2398+175insG ENSP00000262186.5:n.2398+174_2398+175insG
ENST00000330883.8:c.1378+174_1378+175insG ENSP00000328531.4:n.1378+174_1378+175insG
ENST00000430723.4:c.2224_2225insG ENSP00000387657.4:p.Pro742ArgfsTer5
ENST00000461280.1:n.1859_1860insG
ENST00000473610.5:n.2204_2205insG
ENST00000532957.5:n.2795_2796insG
NM_000238.3:c.2398+174_2398+175insG , LRG_288t1:c.2398+174_2398+175insG NP_000229.1:n.2398+174_2398+175insG
NM_001204798.1:c.1552_1553insG NP_001191727.1:p.Pro518ArgfsTer5
NM_172056.2:c.2572_2573insG , LRG_288t2:c.2572_2573insG NP_742053.1:p.Pro858ArgfsTer5
NM_172057.2:c.1378+174_1378+175insG , LRG_288t3:c.1378+174_1378+175insG NP_742054.1:n.1378+174_1378+175insG
XM_011516185.1:c.2098+174_2098+175insG XP_011514487.1:n.2098+174_2098+175insG
XM_011516186.1:c.2398+174_2398+175insG XP_011514488.1:n.2398+174_2398+175insG
XM_011516185.2:c.2098+174_2098+175insG XP_011514487.1:n.2098+174_2098+175insG
XM_011516186.3:c.2398+174_2398+175insG XP_011514488.1:n.2398+174_2398+175insG
XM_017012195.1:c.2248+174_2248+175insG XP_016867684.1:n.2248+174_2248+175insG
XM_017012196.1:c.2221+174_2221+175insG XP_016867685.1:n.2221+174_2221+175insG
NM_000238.4:c.2398+174_2398+175insG MANE Select NP_000229.1:n.2398+174_2398+175insG
NM_001204798.2:c.1552_1553insG NP_001191727.1:p.Pro518ArgfsTer5
NM_172057.3:c.1378+174_1378+175insG NP_742054.1:n.1378+174_1378+175insG