Canonical Allele Identifier: CA384772282
Community Standard Title: NM_000486.6(AQP2):c.298G>A (p.Gly100Arg)
Gene: AQP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951128G>A , CM000674.2:g.49951128G>A GRCh38
NC_000012.11:g.50344911G>A , CM000674.1:g.50344911G>A GRCh37
NC_000012.10:g.48631178G>A NCBI36
NG_008913.1:g.5388G>A , LRG_717:g.5388G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000486.6:c.298G>A MANE Select NP_000477.1:p.Gly100Arg
ENST00000199280.4:c.298G>A MANE Select ENSP00000199280.3:p.Gly100Arg
NM_000486.5:c.298G>A , LRG_717t1:c.298G>A NP_000477.1:p.Gly100Arg
ENST00000199280.3:c.298G>A ENSP00000199280.3:p.Gly100Arg
ENST00000550862.1:c.298G>A ENSP00000450022.1:p.Gly100Arg
ENST00000551526.5:c.298G>A ENSP00000447148.1:p.Gly100Arg
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