Canonical Allele Identifier: CA384771807

Gene: AQP2

Linked Data

• ClinVar Variation Id: 3128127
• ClinVar RCV Id: RCV004420030
• MyVariant Identifiers: chr12:g.50344732C>G (hg19) ; chr12:g.49950949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49950949C>G , CM000674.2:g.49950949C>G	GRCh38
NC_000012.11:g.50344732C>G , CM000674.1:g.50344732C>G	GRCh37
NC_000012.10:g.48630999C>G	NCBI36
NG_008913.1:g.5209C>G , LRG_717:g.5209C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.119C>G MANE Select	ENSP00000199280.3:p.Ser40Cys
ENST00000199280.3:c.119C>G	ENSP00000199280.3:p.Ser40Cys
ENST00000550862.1:c.119C>G	ENSP00000450022.1:p.Ser40Cys
ENST00000551526.5:c.119C>G	ENSP00000447148.1:p.Ser40Cys
NM_000486.5:c.119C>G , LRG_717t1:c.119C>G	NP_000477.1:p.Ser40Cys
NM_000486.6:c.119C>G MANE Select	NP_000477.1:p.Ser40Cys