Canonical Allele Identifier: CA384771792
Gene: AQP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950945C>A , CM000674.2:g.49950945C>A GRCh38
NC_000012.11:g.50344728C>A , CM000674.1:g.50344728C>A GRCh37
NC_000012.10:g.48630995C>A NCBI36
NG_008913.1:g.5205C>A , LRG_717:g.5205C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.115C>A MANE Select ENSP00000199280.3:p.Pro39Thr
ENST00000199280.3:c.115C>A ENSP00000199280.3:p.Pro39Thr
ENST00000550862.1:c.115C>A ENSP00000450022.1:p.Pro39Thr
ENST00000551526.5:c.115C>A ENSP00000447148.1:p.Pro39Thr
NM_000486.5:c.115C>A , LRG_717t1:c.115C>A NP_000477.1:p.Pro39Thr
NM_000486.6:c.115C>A MANE Select NP_000477.1:p.Pro39Thr