Canonical Allele Identifier: CA384774168

Gene: AQP2 AQP5-AS1

Linked Data

• dbSNP Id: rs1181198367
• gnomAD v2: 12-50348113-G-A
• gnomAD v4: 12-49954330-G-A
• MyVariant Identifiers: chr12:g.50348113G>A (hg19) ; chr12:g.49954330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49954330G>A , CM000674.2:g.49954330G>A	GRCh38
NC_000012.11:g.50348113G>A , CM000674.1:g.50348113G>A	GRCh37
NC_000012.10:g.48634380G>A	NCBI36
NG_008913.1:g.8590G>A , LRG_717:g.8590G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000199280.4:c.525+11G>A (AQP2) MANE Select	ENSP00000199280.3:n.525+11G>A
ENST00000199280.3:c.525+11G>A (AQP2)	ENSP00000199280.3:n.525+11G>A
ENST00000550862.1:c.536G>A (AQP2)	ENSP00000450022.1:p.Gly179Asp
ENST00000551526.5:c.525+11G>A (AQP2)	ENSP00000447148.1:n.525+11G>A
NM_000486.5:c.525+11G>A , LRG_717t1:c.525+11G>A (AQP2)	NP_000477.1:n.525+11G>A
NR_110590.1:n.275C>T (AQP5-AS1)
NR_110591.1:n.118-2242C>T (AQP5-AS1)
NM_000486.6:c.525+11G>A (AQP2) MANE Select	NP_000477.1:n.525+11G>A