Canonical Allele Identifier: CA384771981
Gene: AQP2 HGNC NCBI

Linked Data

dbSNP Id: rs1172724582
gnomAD v2: 12-50344755-T-A
gnomAD v4: 12-49950972-T-A
MyVariant Identifiers: chr12:g.50344755T>A (hg19) chr12:g.49950972T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950972T>A , CM000674.2:g.49950972T>A GRCh38
NC_000012.11:g.50344755T>A , CM000674.1:g.50344755T>A GRCh37
NC_000012.10:g.48631022T>A NCBI36
NG_008913.1:g.5232T>A , LRG_717:g.5232T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.142T>A MANE Select ENSP00000199280.3:p.Phe48Ile
ENST00000199280.3:c.142T>A ENSP00000199280.3:p.Phe48Ile
ENST00000550862.1:c.142T>A ENSP00000450022.1:p.Phe48Ile
ENST00000551526.5:c.142T>A ENSP00000447148.1:p.Phe48Ile
NM_000486.5:c.142T>A , LRG_717t1:c.142T>A NP_000477.1:p.Phe48Ile
NM_000486.6:c.142T>A MANE Select NP_000477.1:p.Phe48Ile
Search 100 bp 5'
Search 100 bp 3'