The KCNH2 gene homepage

General information
Gene symbol KCNH2
Gene name potassium voltage-gated channel, subfamily H (eag-related), member 2
Chromosome 7
Chromosomal band q36.1
Imprinted Unknown
Genomic reference LRG_288
Transcript reference NM_000238.3, NM_001204798.1, NM_172056.2, NM_172057.2
Associated with diseases LQT-2, SQT-1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 222
Unique public DNA variants reported 21
Individuals with public variants 35
Hidden variants 40
Date created November 30, -0001
Date last updated September 28, 2016
Version KCNH2:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:6251
Entrez Gene 3757
PubMed articles KCNH2
OMIM - Gene 152427
OMIM - Diseases LQT-2 (QT syndrome, long, type 2 (LQT-2))
SQT-1 (QT syndrome, short, type 1 (SQT-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00027761 7 Manually created transcript NM_001204798.1 - 221
00021813 7 transcript variant 2 NM_172056.2 NP_742053.1 196
00028088 7 Manually created transcript NM_172057.2 - 193
00021812 7 transcript variant 1 NM_000238.3 NP_000229.1 168