Canonical Allele Identifier: CA236731400
Gene: AQP2 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'