Canonical Allele Identifier: CA479584242
Gene: AQP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2031874
ClinVar RCV Id: RCV002867542
gnomAD v4: 12-49951127-C-A
MyVariant Identifiers: chr12:g.50344910C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951127C>A , CM000674.2:g.49951127C>A GRCh38
NC_000012.11:g.50344910C>A , CM000674.1:g.50344910C>A GRCh37
NC_000012.10:g.48631177C>A NCBI36
NG_008913.1:g.5387C>A , LRG_717:g.5387C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.297C>A MANE Select ENSP00000199280.3:p.Ala99=
ENST00000199280.3:c.297C>A ENSP00000199280.3:p.Ala99=
ENST00000550862.1:c.297C>A ENSP00000450022.1:p.Ala99=
ENST00000551526.5:c.297C>A ENSP00000447148.1:p.Ala99=
NM_000486.5:c.297C>A , LRG_717t1:c.297C>A NP_000477.1:p.Ala99=
NM_000486.6:c.297C>A MANE Select NP_000477.1:p.Ala99=
Search 100 bp 5'
Search 100 bp 3'