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_172057.2
Exon/intron information NM_000238.3 exon/intron table
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 959
Unique public DNA variants reported 628
Individuals with public variants 1849
Hidden variants 20
Download all this gene's data Download all data
Notes Alias: HERG.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated June 21, 2019
Version KCNH2:190621

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000238.3.
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))
GeneCards KCNH2
GeneTests KCNH2

Active transcripts




NCBI ID     

NCBI Protein ID     

00010358 7 transcript variant 1 NM_000238.3 NP_000229.1 958
00025348 7 transcript variant 3 NM_172057.2 NP_742054.1 170

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.