Canonical Allele Identifier: CA605235887
Gene: AQP2 HGNC NCBI

Linked Data

dbSNP Id: rs1164513023
gnomAD v2: 12-50344988-C-T
gnomAD v4: 12-49951205-C-T
MyVariant Identifiers: chr12:g.50344988C>T (hg19) chr12:g.49951205C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951205C>T , CM000674.2:g.49951205C>T GRCh38
NC_000012.11:g.50344988C>T , CM000674.1:g.50344988C>T GRCh37
NC_000012.10:g.48631255C>T NCBI36
NG_008913.1:g.5465C>T , LRG_717:g.5465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.360+15C>T MANE Select ENSP00000199280.3:n.360+15C>T
ENST00000199280.3:c.360+15C>T ENSP00000199280.3:n.360+15C>T
ENST00000550862.1:c.360+15C>T ENSP00000450022.1:n.360+15C>T
ENST00000551526.5:c.360+15C>T ENSP00000447148.1:n.360+15C>T
NM_000486.5:c.360+15C>T , LRG_717t1:c.360+15C>T NP_000477.1:n.360+15C>T
NM_000486.6:c.360+15C>T MANE Select NP_000477.1:n.360+15C>T
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