Gene: KCNH2 ENSG00000055118

Description

potassium voltage-gated channel, subfamily H (eag-related), member 2 [Source:HGNC Symbol;Acc:6251]

Gene Synonyms

ERG, ERG1, HERG, HERG1, Kv11.1, LQT2, SQT1, erg1

Location

Chromosome 7: 150,642,049-150,675,403 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 7 transcripts (splice variants), 17 paralogues and is associated with 6 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000392968.2	KCNH2-201	4717	1063aa	ENSP00000376695.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q12809 Q6U279 Q6U283 Q6U287	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000262186.5	KCNH2-001	4286	1159aa	ENSP00000262186.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5910	Q12809 Q45QN5 Q6U279 Q6U283 Q6U287 Q75MK8 Q75MK9	NM_000238.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000330883.4	KCNH2-004	3267	819aa	ENSP00000328531.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5911	Q12809 Q45QN4 Q6U279 Q6U283 Q6U287	NM_172057.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000430723.3	KCNH2-202	3145	888aa	ENSP00000387657.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47747	Q12809 Q45QN5 Q6U279 Q6U283 Q6U287 Q75MK8 Q75MK9	NM_172056.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000532957.1	KCNH2-002	3374	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000473610.1	KCNH2-005	2782	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000461280.1	KCNH2-008	2430	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: KCNH2 ENSG00000055118

Summary