Name: [Hs00077684_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:	Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNH2	NM_000238.3			NP_000229.1
	NM_172056.2			NP_742053.1
	XM_011516185.2			XP_011514487.1
	XM_011516186.2			XP_011514488.1
	XM_017012195.1			XP_016867684.1
	XM_017012196.1			XP_016867685.1
	AB044806.1			BAB19682.1
	AF363636.1			AAL37559.1
	BC001914.1			AAH01914.2
	BM674996.1
	BT007336.1			AAP36000.1
	DQ525913.1
	FJ938021.1	1	1165
	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	KCNH2 NOS3 GIMAP1-GIMAP5 GIMAP6 GIMAP2 GIMAP1 TMEM176A GIMAP5 AOC1 LOC105375566 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	KCNH2 NOS3 ATG9B TMUB1 FASTK ASIC3 CDK5 ABCB8 SLC4A2 AGAP3
esv2759574	Chr.7:150841733 - 150966609 on Build GRCh38	Loss	KCNH2 AOC1
nsv608990	Chr.7:150264185 - 151010400 on Build GRCh38	Gain	GIMAP8 KCNH2 ZNF775 LOC728743 LOC107986860 GIMAP2 GIMAP7 TMEM176A LINC00996 AOC1 LOC105375566 ZBED6CL TMEM176B NOS3 RARRES2 ACTR3C GIMAP1-GIMAP5 GIMAP6 REPIN1 LRRC61 GIMAP4 GIMAP1 GIMAP5