Canonical Allele Identifier: CA2035390850
Gene: AQP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951166C= , CM000674.2:g.49951166C= GRCh38
NC_000012.11:g.50344949C= , CM000674.1:g.50344949C= GRCh37
NC_000012.10:g.48631216C= NCBI36
NG_008913.1:g.5426C= , LRG_717:g.5426C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.336C= MANE Select ENSP00000199280.3:p.Ile112=
ENST00000199280.3:c.336C= ENSP00000199280.3:p.Ile112=
ENST00000550862.1:c.336C= ENSP00000450022.1:p.Ile112=
ENST00000551526.5:c.336C= ENSP00000447148.1:p.Ile112=
NM_000486.5:c.336C= , LRG_717t1:c.336C= NP_000477.1:p.Ile112=
NM_000486.6:c.336C= MANE Select NP_000477.1:p.Ile112=
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