Canonical Allele Identifier: CA236731680
Gene: AQP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2864405
ClinVar RCV Id: RCV003697260
dbSNP Id: rs11557014
gnomAD v3: 12-49951139-G-T
gnomAD v4: 12-49951139-G-T
MyVariant Identifiers: chr12:g.50344922G>T (hg19) chr12:g.49951139G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951139G>T , CM000674.2:g.49951139G>T GRCh38
NC_000012.11:g.50344922G>T , CM000674.1:g.50344922G>T GRCh37
NC_000012.10:g.48631189G>T NCBI36
NG_008913.1:g.5399G>T , LRG_717:g.5399G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.309G>T MANE Select ENSP00000199280.3:p.Leu103=
ENST00000199280.3:c.309G>T ENSP00000199280.3:p.Leu103=
ENST00000550862.1:c.309G>T ENSP00000450022.1:p.Leu103=
ENST00000551526.5:c.309G>T ENSP00000447148.1:p.Leu103=
NM_000486.5:c.309G>T , LRG_717t1:c.309G>T NP_000477.1:p.Leu103=
NM_000486.6:c.309G>T MANE Select NP_000477.1:p.Leu103=
Search 100 bp 5'
Search 100 bp 3'