Canonical Allele Identifier: CA6559164
Gene: AQP2 HGNC NCBI

Linked Data

dbSNP Id: rs544999593
ExAC: 12:50344806 G / C
gnomAD v2: 12-50344806-G-C
gnomAD v4: 12-49951023-G-C
MyVariant Identifiers: chr12:g.50344806G>C (hg19) chr12:g.49951023G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951023G>C , CM000674.2:g.49951023G>C GRCh38
NC_000012.11:g.50344806G>C , CM000674.1:g.50344806G>C GRCh37
NC_000012.10:g.48631073G>C NCBI36
NG_008913.1:g.5283G>C , LRG_717:g.5283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.193G>C MANE Select ENSP00000199280.3:p.Ala65Pro
ENST00000199280.3:c.193G>C ENSP00000199280.3:p.Ala65Pro
ENST00000550862.1:c.193G>C ENSP00000450022.1:p.Ala65Pro
ENST00000551526.5:c.193G>C ENSP00000447148.1:p.Ala65Pro
NM_000486.5:c.193G>C , LRG_717t1:c.193G>C NP_000477.1:p.Ala65Pro
NM_000486.6:c.193G>C MANE Select NP_000477.1:p.Ala65Pro
Search 100 bp 5'
Search 100 bp 3'