Canonical Allele Identifier: CA479584135
Gene: AQP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.50344826G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951043G>C , CM000674.2:g.49951043G>C GRCh38
NC_000012.11:g.50344826G>C , CM000674.1:g.50344826G>C GRCh37
NC_000012.10:g.48631093G>C NCBI36
NG_008913.1:g.5303G>C , LRG_717:g.5303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.213G>C MANE Select ENSP00000199280.3:p.Val71=
ENST00000199280.3:c.213G>C ENSP00000199280.3:p.Val71=
ENST00000550862.1:c.213G>C ENSP00000450022.1:p.Val71=
ENST00000551526.5:c.213G>C ENSP00000447148.1:p.Val71=
NM_000486.5:c.213G>C , LRG_717t1:c.213G>C NP_000477.1:p.Val71=
NM_000486.6:c.213G>C MANE Select NP_000477.1:p.Val71=
Search 100 bp 5'
Search 100 bp 3'