Canonical Allele Identifier: CA384772531
Gene: AQP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.50344975T>A (hg19) chr12:g.49951192T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951192T>A , CM000674.2:g.49951192T>A GRCh38
NC_000012.11:g.50344975T>A , CM000674.1:g.50344975T>A GRCh37
NC_000012.10:g.48631242T>A NCBI36
NG_008913.1:g.5452T>A , LRG_717:g.5452T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.360+2T>A MANE Select ENSP00000199280.3:n.360+2T>A
ENST00000199280.3:c.360+2T>A ENSP00000199280.3:n.360+2T>A
ENST00000550862.1:c.360+2T>A ENSP00000450022.1:n.360+2T>A
ENST00000551526.5:c.360+2T>A ENSP00000447148.1:n.360+2T>A
NM_000486.5:c.360+2T>A , LRG_717t1:c.360+2T>A NP_000477.1:n.360+2T>A
NM_000486.6:c.360+2T>A MANE Select NP_000477.1:n.360+2T>A
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