Canonical Allele Identifier: CA2035390450
Gene: AQP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950946C= , CM000674.2:g.49950946C= GRCh38
NC_000012.11:g.50344729C= , CM000674.1:g.50344729C= GRCh37
NC_000012.10:g.48630996C= NCBI36
NG_008913.1:g.5206C= , LRG_717:g.5206C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.116C= MANE Select ENSP00000199280.3:p.Pro39=
ENST00000199280.3:c.116C= ENSP00000199280.3:p.Pro39=
ENST00000550862.1:c.116C= ENSP00000450022.1:p.Pro39=
ENST00000551526.5:c.116C= ENSP00000447148.1:p.Pro39=
NM_000486.5:c.116C= , LRG_717t1:c.116C= NP_000477.1:p.Pro39=
NM_000486.6:c.116C= MANE Select NP_000477.1:p.Pro39=