Canonical Allele Identifier: CA236731400

Gene: AQP2

Linked Data

• ClinVar Variation Id: 446860
• ClinVar RCV Id: RCV000516325 ; RCV001329304
• dbSNP Id: rs149659001
• gnomAD v2: 12-50344824-G-A
• gnomAD v3: 12-49951041-G-A
• gnomAD v4: 12-49951041-G-A
• MyVariant Identifiers: chr12:g.50344824G>A (hg19) ; chr12:g.49951041G>A (hg38)
• PubMed: PMID:11853799 ; PMID:12191971 ; PMID:19147915 ; PMID:20711567 ; PMID:22498392 ; PMID:26442203 ; PMID:27156763

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951041G>A , CM000674.2:g.49951041G>A	GRCh38
NC_000012.11:g.50344824G>A , CM000674.1:g.50344824G>A	GRCh37
NC_000012.10:g.48631091G>A	NCBI36
NG_008913.1:g.5301G>A , LRG_717:g.5301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.211G>A MANE Select	ENSP00000199280.3:p.Val71Met
ENST00000199280.3:c.211G>A	ENSP00000199280.3:p.Val71Met
ENST00000550862.1:c.211G>A	ENSP00000450022.1:p.Val71Met
ENST00000551526.5:c.211G>A	ENSP00000447148.1:p.Val71Met
NM_000486.5:c.211G>A , LRG_717t1:c.211G>A	NP_000477.1:p.Val71Met
NM_000486.6:c.211G>A MANE Select	NP_000477.1:p.Val71Met