Canonical Allele Identifier: CA384771801
Gene: AQP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950948T>G , CM000674.2:g.49950948T>G GRCh38
NC_000012.11:g.50344731T>G , CM000674.1:g.50344731T>G GRCh37
NC_000012.10:g.48630998T>G NCBI36
NG_008913.1:g.5208T>G , LRG_717:g.5208T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.118T>G MANE Select ENSP00000199280.3:p.Ser40Ala
ENST00000199280.3:c.118T>G ENSP00000199280.3:p.Ser40Ala
ENST00000550862.1:c.118T>G ENSP00000450022.1:p.Ser40Ala
ENST00000551526.5:c.118T>G ENSP00000447148.1:p.Ser40Ala
NM_000486.5:c.118T>G , LRG_717t1:c.118T>G NP_000477.1:p.Ser40Ala
NM_000486.6:c.118T>G MANE Select NP_000477.1:p.Ser40Ala