Canonical Allele Identifier: CA369855915
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950135T>A , CM000669.2:g.150950135T>A GRCh38
NC_000007.13:g.150647223T>A , CM000669.1:g.150647223T>A GRCh37
NC_000007.12:g.150278156T>A NCBI36
NG_008916.1:g.32792A>T , LRG_288:g.32792A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1729A>T
ENST00000684241.1:n.3231+33A>T
ENST00000262186.10:c.2398+33A>T MANE Select ENSP00000262186.5:n.2398+33A>T
ENST00000330883.9:c.1378+33A>T ENSP00000328531.4:n.1378+33A>T
ENST00000262186.9:c.2398+33A>T ENSP00000262186.5:n.2398+33A>T
ENST00000330883.8:c.1378+33A>T ENSP00000328531.4:n.1378+33A>T
ENST00000430723.4:c.2083A>T ENSP00000387657.4:p.Met695Leu
ENST00000461280.1:n.1718A>T
ENST00000473610.5:n.2063A>T
ENST00000532957.5:n.2654A>T
NM_000238.3:c.2398+33A>T , LRG_288t1:c.2398+33A>T NP_000229.1:n.2398+33A>T
NM_001204798.1:c.1411A>T NP_001191727.1:p.Met471Leu
NM_172056.2:c.2431A>T , LRG_288t2:c.2431A>T NP_742053.1:p.Met811Leu
NM_172057.2:c.1378+33A>T , LRG_288t3:c.1378+33A>T NP_742054.1:n.1378+33A>T
XM_011516185.1:c.2098+33A>T XP_011514487.1:n.2098+33A>T
XM_011516186.1:c.2398+33A>T XP_011514488.1:n.2398+33A>T
XM_011516185.2:c.2098+33A>T XP_011514487.1:n.2098+33A>T
XM_011516186.3:c.2398+33A>T XP_011514488.1:n.2398+33A>T
XM_017012195.1:c.2248+33A>T XP_016867684.1:n.2248+33A>T
XM_017012196.1:c.2221+33A>T XP_016867685.1:n.2221+33A>T
NM_000238.4:c.2398+33A>T MANE Select NP_000229.1:n.2398+33A>T
NM_001204798.2:c.1411A>T NP_001191727.1:p.Met471Leu
NM_172057.3:c.1378+33A>T NP_742054.1:n.1378+33A>T