Canonical Allele Identifier: CA127470
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI
ClinVar RCV:
RCV000019410
RCV000029343
RCV000803130
ClinVar Variation:
17832
dbSNP:
104894334
gnomAD v2:
12:50348016 G / A
gnomAD v3:
12:49954233 G / A
gnomAD v4:
chr12-49954233-G-A
Joint Max Group AF 0.00003341 (NFE)
Genomes Max Group AF 0.00007908 (NFE)
Exomes Max Group AF 0.00002743 (NFE)
MyVariant.info:
GRCh38 chr12:g.49954233G>A
GRCh37 chr12:g.50348016G>A
Revel Score:
ENST00000199280 (MANE Select) 0.845
ENST00000550862 0.845
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49954233G>A , CM000674.2:g.49954233G>A GRCh38
NC_000012.11:g.50348016G>A , CM000674.1:g.50348016G>A GRCh37
NC_000012.10:g.48634283G>A NCBI36
NG_008913.1:g.8493G>A , LRG_717:g.8493G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.439G>A (AQP2) MANE Select ENSP00000199280.3:p.Ala147Thr
ENST00000199280.3:c.439G>A (AQP2) ENSP00000199280.3:p.Ala147Thr
ENST00000550862.1:c.439G>A (AQP2) ENSP00000450022.1:p.Ala147Thr
ENST00000551526.5:c.439G>A (AQP2) ENSP00000447148.1:p.Ala147Thr
NM_000486.5:c.439G>A , LRG_717t1:c.439G>A (AQP2) NP_000477.1:p.Ala147Thr
NR_110590.1:n.372C>T (AQP5-AS1)
NR_110591.1:n.118-2145C>T (AQP5-AS1)
NM_000486.6:c.439G>A (AQP2) MANE Select NP_000477.1:p.Ala147Thr
Search 100 bp 5'
Search 100 bp 3'