Name: [Hs03642455_cn] [KCNH2]
Creator: Thermo Fisher Scientific
Keywords: [KCNH2] Assay, [potassium voltage-gated channel subfamily H member 2] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	3757
Gene Name:	potassium voltage-gated channel subfamily H member 2
Gene Aliases:	ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1, LQT2, SQT1
Location:	Chr.7:150944956-150978314 on Build GRCh38
Assay Gene Location:	Within Intron 13

Gene Symbol	Transcript Accession	Protein ID
KCNH2	NM_000238.3	NP_000229.1
	NM_172057.2	NP_742054.1
	XM_011516185.2	XP_011514487.1
	XM_011516186.2	XP_011514488.1
	XM_017012195.1	XP_016867684.1
	XM_017012196.1	XP_016867685.1
	AF363636.1	AAL37559.1
	AJ512214.1	CAD54447.1
	BC004311.2	AAH04311.2
	BC127673.1
	BM674996.1
	DQ525913.1
	FJ938021.1
	U04270.1	AAA62473.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1030109	Chr.7:150615828 - 151003922 on Build GRCh38	Gain	GIMAP6 TMEM176A LOC105375566 GIMAP5 NOS3 KCNH2 GIMAP1-GIMAP5 GIMAP1 AOC1 GIMAP2 TMEM176B
nsv465213	Chr.7:150909200 - 150970122 on Build GRCh38	Loss	KCNH2
dgv11721n54	Chr.7:150901404 - 150970122 on Build GRCh38	Loss	KCNH2
nsv951648	Chr.7:150931413 - 151106413 on Build GRCh38	Deletion	TMUB1 CDK5 NOS3 ASIC3 KCNH2 ABCB8 SLC4A2 ATG9B AGAP3 FASTK
esv2759574	Chr.7:150841733 - 150966609 on Build GRCh38	Loss	KCNH2 AOC1
nsv608990	Chr.7:150264185 - 151010400 on Build GRCh38	Gain	GIMAP8 REPIN1 LOC105375566 LINC00996 RARRES2 KCNH2 GIMAP1-GIMAP5 GIMAP1 LRRC61 GIMAP2 LOC728743 LOC107986860 GIMAP6 TMEM176A GIMAP5 GIMAP4 NOS3 ZNF775 ZBED6CL AOC1 TMEM176B GIMAP7 ACTR3C