Canonical Allele Identifier: CA384771963
Gene: AQP2 HGNC NCBI

Linked Data

dbSNP Id: rs1947324308

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950963G>A , CM000674.2:g.49950963G>A GRCh38
NC_000012.11:g.50344746G>A , CM000674.1:g.50344746G>A GRCh37
NC_000012.10:g.48631013G>A NCBI36
NG_008913.1:g.5223G>A , LRG_717:g.5223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.133G>A MANE Select ENSP00000199280.3:p.Ala45Thr
ENST00000199280.3:c.133G>A ENSP00000199280.3:p.Ala45Thr
ENST00000550862.1:c.133G>A ENSP00000450022.1:p.Ala45Thr
ENST00000551526.5:c.133G>A ENSP00000447148.1:p.Ala45Thr
NM_000486.5:c.133G>A , LRG_717t1:c.133G>A NP_000477.1:p.Ala45Thr
NM_000486.6:c.133G>A MANE Select NP_000477.1:p.Ala45Thr