Canonical Allele Identifier: CA2035390468
Gene: AQP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950956A= , CM000674.2:g.49950956A= GRCh38
NC_000012.11:g.50344739A= , CM000674.1:g.50344739A= GRCh37
NC_000012.10:g.48631006A= NCBI36
NG_008913.1:g.5216A= , LRG_717:g.5216A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.126A= MANE Select ENSP00000199280.3:p.Leu42=
ENST00000199280.3:c.126A= ENSP00000199280.3:p.Leu42=
ENST00000550862.1:c.126A= ENSP00000450022.1:p.Leu42=
ENST00000551526.5:c.126A= ENSP00000447148.1:p.Leu42=
NM_000486.5:c.126A= , LRG_717t1:c.126A= NP_000477.1:p.Leu42=
NM_000486.6:c.126A= MANE Select NP_000477.1:p.Leu42=