View 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
Exon/intron information NM_000238.3
Associated with diseases LQT-2, SQT-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 293
Unique public DNA variants reported 234
Individuals with public variants 1147
Hidden variants 2
Date created May 03, 2013
Date last updated April 27, 2016
Version KCNH2:160427

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
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))
HGMD KCNH2
GeneCards KCNH2
GeneTests KCNH2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010358 7 transcript variant 1 NM_000238.3 NP_000229.1 293


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