Canonical Allele Identifier: CA479584199

Gene: AQP2

Linked Data

• dbSNP Id: rs1947325847
• gnomAD v4: 12-49951100-G-T
• MyVariant Identifiers: chr12:g.50344883G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951100G>T , CM000674.2:g.49951100G>T	GRCh38
NC_000012.11:g.50344883G>T , CM000674.1:g.50344883G>T	GRCh37
NC_000012.10:g.48631150G>T	NCBI36
NG_008913.1:g.5360G>T , LRG_717:g.5360G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.270G>T MANE Select	ENSP00000199280.3:p.Val90=
ENST00000199280.3:c.270G>T	ENSP00000199280.3:p.Val90=
ENST00000550862.1:c.270G>T	ENSP00000450022.1:p.Val90=
ENST00000551526.5:c.270G>T	ENSP00000447148.1:p.Val90=
NM_000486.5:c.270G>T , LRG_717t1:c.270G>T	NP_000477.1:p.Val90=
NM_000486.6:c.270G>T MANE Select	NP_000477.1:p.Val90=