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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: AQP2 ENSG00000167580

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Description

aquaporin 2 (collecting duct) [Source:HGNC Symbol;Acc:634]

Gene Synonyms

AQP-CD, WCH-CD

Location

Chromosome 12: 50,344,524-50,352,664 forward strand.

GRCh37:CM000674.1

About this gene

This gene has 3 transcripts (splice variants), 7 paralogues and is associated with 2 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000199280.3	AQP2-001	4174	271aa	ENSP00000199280.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8792	P41181	NM_000486.5	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000550862.1	AQP2-004	809	244aa	ENSP00000450022.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VPL3	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000551526.1	AQP2-003	1762	223aa	ENSP00000447148.1	Nonsense mediated decay		F8W0S2	-	-

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Summary

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