Canonical Allele Identifier: CA384772463
Gene: AQP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.50344957A>C (hg19) chr12:g.49951174A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951174A>C , CM000674.2:g.49951174A>C GRCh38
NC_000012.11:g.50344957A>C , CM000674.1:g.50344957A>C GRCh37
NC_000012.10:g.48631224A>C NCBI36
NG_008913.1:g.5434A>C , LRG_717:g.5434A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.344A>C MANE Select ENSP00000199280.3:p.Asp115Ala
ENST00000199280.3:c.344A>C ENSP00000199280.3:p.Asp115Ala
ENST00000550862.1:c.344A>C ENSP00000450022.1:p.Asp115Ala
ENST00000551526.5:c.344A>C ENSP00000447148.1:p.Asp115Ala
NM_000486.5:c.344A>C , LRG_717t1:c.344A>C NP_000477.1:p.Asp115Ala
NM_000486.6:c.344A>C MANE Select NP_000477.1:p.Asp115Ala
Search 100 bp 5'
Search 100 bp 3'