Canonical Allele Identifier: CA127488

Gene: AQP2

Linked Data

• ClinVar Variation Id: 17843
• ClinVar RCV Id: RCV000019421 ; RCV001851945
• dbSNP Id: rs104894338
• ExAC: 12:50344912 G / T
• gnomAD v2: 12-50344912-G-T
• gnomAD v3: 12-49951129-G-T
• gnomAD v4: 12-49951129-G-T
• MyVariant Identifiers: chr12:g.50344912G>T (hg19) ; chr12:g.49951129G>T (hg38)
• PubMed: PMID:12050236

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951129G>T , CM000674.2:g.49951129G>T	GRCh38
NC_000012.11:g.50344912G>T , CM000674.1:g.50344912G>T	GRCh37
NC_000012.10:g.48631179G>T	NCBI36
NG_008913.1:g.5389G>T , LRG_717:g.5389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.299G>T MANE Select	ENSP00000199280.3:p.Gly100Val
ENST00000199280.3:c.299G>T	ENSP00000199280.3:p.Gly100Val
ENST00000550862.1:c.299G>T	ENSP00000450022.1:p.Gly100Val
ENST00000551526.5:c.299G>T	ENSP00000447148.1:p.Gly100Val
NM_000486.5:c.299G>T , LRG_717t1:c.299G>T	NP_000477.1:p.Gly100Val
NM_000486.6:c.299G>T MANE Select	NP_000477.1:p.Gly100Val