Canonical Allele Identifier: CA369855592
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150949980C>A , CM000669.2:g.150949980C>A GRCh38
NC_000007.13:g.150647068C>A , CM000669.1:g.150647068C>A GRCh37
NC_000007.12:g.150278001C>A NCBI36
NG_008916.1:g.32947G>T , LRG_288:g.32947G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1884G>T
ENST00000684241.1:n.3231+188G>T
ENST00000262186.10:c.2398+188G>T MANE Select ENSP00000262186.5:n.2398+188G>T
ENST00000330883.9:c.1378+188G>T ENSP00000328531.4:n.1378+188G>T
ENST00000262186.9:c.2398+188G>T ENSP00000262186.5:n.2398+188G>T
ENST00000330883.8:c.1378+188G>T ENSP00000328531.4:n.1378+188G>T
ENST00000430723.4:c.2238G>T ENSP00000387657.4:p.Glu746Asp
ENST00000461280.1:n.1873G>T
ENST00000473610.5:n.2218G>T
ENST00000532957.5:n.2809G>T
NM_000238.3:c.2398+188G>T , LRG_288t1:c.2398+188G>T NP_000229.1:n.2398+188G>T
NM_001204798.1:c.1566G>T NP_001191727.1:p.Glu522Asp
NM_172056.2:c.2586G>T , LRG_288t2:c.2586G>T NP_742053.1:p.Glu862Asp
NM_172057.2:c.1378+188G>T , LRG_288t3:c.1378+188G>T NP_742054.1:n.1378+188G>T
XM_011516185.1:c.2098+188G>T XP_011514487.1:n.2098+188G>T
XM_011516186.1:c.2398+188G>T XP_011514488.1:n.2398+188G>T
XM_011516185.2:c.2098+188G>T XP_011514487.1:n.2098+188G>T
XM_011516186.3:c.2398+188G>T XP_011514488.1:n.2398+188G>T
XM_017012195.1:c.2248+188G>T XP_016867684.1:n.2248+188G>T
XM_017012196.1:c.2221+188G>T XP_016867685.1:n.2221+188G>T
NM_000238.4:c.2398+188G>T MANE Select NP_000229.1:n.2398+188G>T
NM_001204798.2:c.1566G>T NP_001191727.1:p.Glu522Asp
NM_172057.3:c.1378+188G>T NP_742054.1:n.1378+188G>T