Canonical Allele Identifier: CA384772100
Gene: AQP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951030T>G , CM000674.2:g.49951030T>G GRCh38
NC_000012.11:g.50344813T>G , CM000674.1:g.50344813T>G GRCh37
NC_000012.10:g.48631080T>G NCBI36
NG_008913.1:g.5290T>G , LRG_717:g.5290T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.200T>G MANE Select ENSP00000199280.3:p.Ile67Ser
ENST00000199280.3:c.200T>G ENSP00000199280.3:p.Ile67Ser
ENST00000550862.1:c.200T>G ENSP00000450022.1:p.Ile67Ser
ENST00000551526.5:c.200T>G ENSP00000447148.1:p.Ile67Ser
NM_000486.5:c.200T>G , LRG_717t1:c.200T>G NP_000477.1:p.Ile67Ser
NM_000486.6:c.200T>G MANE Select NP_000477.1:p.Ile67Ser