TPCN2 two pore segment channel 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: TPCN2
Type: protein-coding
Description: two pore segment channel 2
Entrez Gene ID: 219931
Genome: hg19
Position: chr11:68,816,400-68,858,065
Genome: hg38
Position: chr11:69,048,932-69,090,597
MIM: 612163 OMIM
HGNC: HGNC:20820 HGNC
Ensembl: ENSG00000162341 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	16
Likely benign	0	14
association	0	4
Uncertain significance	0	104

Ranking

	ClinVar
	0
	0
	2
	132
	4

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	SHEP10
SYNONYM	TPC2
MIM	612163 OMIM
HGNC	HGNC:20820 HGNC
Ensembl	ENSG00000162341 Ensembl
AllianceGenome	HGNC:20820

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000637342.1	hg38	chr11	69,048,975	69,136,264	87,290
ENST00000294309.8	hg38	chr11	69,048,932	69,090,597	41,666
ENST00000637504.1	hg38	chr11	69,048,932	69,136,316	87,385
ENST00000542467.1	hg38	chr11	69,048,961	69,088,203	39,243
ENST00000294309.8	hg19	chr11	68,816,400	68,858,065	41,666
ENST00000637504.1	hg19	chr11	68,816,400	68,903,784	87,385
ENST00000542467.1	hg19	chr11	68,816,429	68,855,671	39,243
ENST00000637342.1	hg19	chr11	68,816,443	68,903,732	87,290

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