Canonical Allele Identifier: CA6559130

Gene: AQP2

Linked Data

• ClinVar Variation Id: 256244
• ClinVar RCV Id: RCV000254517 ; RCV001111886 ; RCV000950443 ; RCV001828134
• dbSNP Id: rs61733029
• ExAC: 12:50344652 G / A
• gnomAD v2: 12-50344652-G-A
• gnomAD v3: 12-49950869-G-A
• gnomAD v4: 12-49950869-G-A
• MyVariant Identifiers: chr12:g.50344652G>A (hg19) ; chr12:g.49950869G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49950869G>A , CM000674.2:g.49950869G>A	GRCh38
NC_000012.11:g.50344652G>A , CM000674.1:g.50344652G>A	GRCh37
NC_000012.10:g.48630919G>A	NCBI36
NG_008913.1:g.5129G>A , LRG_717:g.5129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.39G>A MANE Select	ENSP00000199280.3:p.Val13=
ENST00000199280.3:c.39G>A	ENSP00000199280.3:p.Val13=
ENST00000550862.1:c.39G>A	ENSP00000450022.1:p.Val13=
ENST00000551526.5:c.39G>A	ENSP00000447148.1:p.Val13=
NM_000486.5:c.39G>A , LRG_717t1:c.39G>A	NP_000477.1:p.Val13=
NM_000486.6:c.39G>A MANE Select	NP_000477.1:p.Val13=