Canonical Allele Identifier: CA479584245
Gene: AQP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 798912
ClinVar RCV Id: RCV000982482 RCV001836053
dbSNP Id: rs959834754
gnomAD v2: 12-50344910-C-T
gnomAD v3: 12-49951127-C-T
gnomAD v4: 12-49951127-C-T
COSMIC: COSM4818318
MyVariant Identifiers: chr12:g.50344910C>T (hg19) chr12:g.49951127C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951127C>T , CM000674.2:g.49951127C>T GRCh38
NC_000012.11:g.50344910C>T , CM000674.1:g.50344910C>T GRCh37
NC_000012.10:g.48631177C>T NCBI36
NG_008913.1:g.5387C>T , LRG_717:g.5387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.297C>T MANE Select ENSP00000199280.3:p.Ala99=
ENST00000199280.3:c.297C>T ENSP00000199280.3:p.Ala99=
ENST00000550862.1:c.297C>T ENSP00000450022.1:p.Ala99=
ENST00000551526.5:c.297C>T ENSP00000447148.1:p.Ala99=
NM_000486.5:c.297C>T , LRG_717t1:c.297C>T NP_000477.1:p.Ala99=
NM_000486.6:c.297C>T MANE Select NP_000477.1:p.Ala99=
Search 100 bp 5'
Search 100 bp 3'