AVPR2 arginine vasopressin receptor 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: AVPR2
Type: protein-coding
Description: arginine vasopressin receptor 2
Entrez Gene ID: 554
Genome: hg19
Position: chrX:153,170,127-153,172,620
Genome: hg38
Position: chrX:153,904,673-153,907,166
MIM: 300538 OMIM
HGNC: HGNC:897 HGNC
Ensembl: ENSG00000126895 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	28	120
Likely pathogenic	0	56
Benign	0	74
Likely benign	0	258
Conflicting classifications of pathogenicity	0	18
not provided	8	0
Uncertain significance	0	100

Ranking

	ClinVar
	0
	0
	100
	434
	36

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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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

Search Word

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	ADHR
SYNONYM	DI1
SYNONYM	DIR
SYNONYM	DIR3
SYNONYM	NDI
SYNONYM	NDI1
SYNONYM	V2R
MIM	300538 OMIM
HGNC	HGNC:897 HGNC
Ensembl	ENSG00000126895 Ensembl
AllianceGenome	HGNC:897

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000370049.1	hg38	chrX	153,905,114	153,906,781	1,668
ENST00000646375.2	hg38	chrX	153,904,673	153,907,166	2,494
ENST00000337474.5	hg38	chrX	153,905,075	153,907,163	2,089
ENST00000646375.2	hg19	chrX	153,170,127	153,172,620	2,494
ENST00000337474.5	hg19	chrX	153,170,529	153,172,617	2,089
ENST00000370049.1	hg19	chrX	153,170,568	153,172,235	1,668

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