Canonical Allele Identifier: CA479584145
Gene: AQP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2812910
ClinVar RCV Id: RCV003677751
gnomAD v4: 12-49951052-C-T
MyVariant Identifiers: chr12:g.50344835C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951052C>T , CM000674.2:g.49951052C>T GRCh38
NC_000012.11:g.50344835C>T , CM000674.1:g.50344835C>T GRCh37
NC_000012.10:g.48631102C>T NCBI36
NG_008913.1:g.5312C>T , LRG_717:g.5312C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.222C>T MANE Select ENSP00000199280.3:p.Ala74=
ENST00000199280.3:c.222C>T ENSP00000199280.3:p.Ala74=
ENST00000550862.1:c.222C>T ENSP00000450022.1:p.Ala74=
ENST00000551526.5:c.222C>T ENSP00000447148.1:p.Ala74=
NM_000486.5:c.222C>T , LRG_717t1:c.222C>T NP_000477.1:p.Ala74=
NM_000486.6:c.222C>T MANE Select NP_000477.1:p.Ala74=
Search 100 bp 5'
Search 100 bp 3'