Canonical Allele Identifier: CA2035390825
Gene: AQP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951139G= , CM000674.2:g.49951139G= GRCh38
NC_000012.11:g.50344922G= , CM000674.1:g.50344922G= GRCh37
NC_000012.10:g.48631189G= NCBI36
NG_008913.1:g.5399G= , LRG_717:g.5399G=

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.309G= MANE Select ENSP00000199280.3:p.Leu103=
ENST00000199280.3:c.309G= ENSP00000199280.3:p.Leu103=
ENST00000550862.1:c.309G= ENSP00000450022.1:p.Leu103=
ENST00000551526.5:c.309G= ENSP00000447148.1:p.Leu103=
NM_000486.5:c.309G= , LRG_717t1:c.309G= NP_000477.1:p.Leu103=
NM_000486.6:c.309G= MANE Select NP_000477.1:p.Leu103=