Canonical Allele Identifier: CA127468

Gene: AQP2

Linked Data

• ClinVar Variation Id: 17830
• ClinVar RCV Id: RCV000518067 ; RCV001274488 ; RCV001375962
• dbSNP Id: rs104894326
• ExAC: 12:50344803 G / A
• gnomAD v2: 12-50344803-G-A
• gnomAD v4: 12-49951020-G-A
• MyVariant Identifiers: chr12:g.50344803G>A (hg19) ; chr12:g.49951020G>A (hg38)
• PubMed: PMID:7524315 ; PMID:7537761 ; PMID:8793791 ; PMID:11374071

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951020G>A , CM000674.2:g.49951020G>A	GRCh38
NC_000012.11:g.50344803G>A , CM000674.1:g.50344803G>A	GRCh37
NC_000012.10:g.48631070G>A	NCBI36
NG_008913.1:g.5280G>A , LRG_717:g.5280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.190G>A MANE Select	ENSP00000199280.3:p.Gly64Arg
ENST00000199280.3:c.190G>A	ENSP00000199280.3:p.Gly64Arg
ENST00000550862.1:c.190G>A	ENSP00000450022.1:p.Gly64Arg
ENST00000551526.5:c.190G>A	ENSP00000447148.1:p.Gly64Arg
NM_000486.5:c.190G>A , LRG_717t1:c.190G>A	NP_000477.1:p.Gly64Arg
NM_000486.6:c.190G>A MANE Select	NP_000477.1:p.Gly64Arg