Canonical Allele Identifier: CA6559293
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs104894337

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49954647C>T , CM000674.2:g.49954647C>T GRCh38
NC_000012.11:g.50348430C>T , CM000674.1:g.50348430C>T GRCh37
NC_000012.10:g.48634697C>T NCBI36
NG_008913.1:g.8907C>T , LRG_717:g.8907C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.543C>T (AQP2) MANE Select ENSP00000199280.3:p.Cys181=
ENST00000199280.3:c.543C>T (AQP2) ENSP00000199280.3:p.Cys181=
ENST00000550862.1:c.669C>T (AQP2) ENSP00000450022.1:p.Cys223=
ENST00000551526.5:c.543C>T (AQP2) ENSP00000447148.1:p.Cys181=
NM_000486.5:c.543C>T , LRG_717t1:c.543C>T (AQP2) NP_000477.1:p.Cys181=
NR_110590.1:n.257-299G>A (AQP5-AS1)
NR_110591.1:n.118-2559G>A (AQP5-AS1)
NM_000486.6:c.543C>T (AQP2) MANE Select NP_000477.1:p.Cys181=