Canonical Allele Identifier: CA384771748
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49950933-C-G
MyVariant Identifiers: chr12:g.50344716C>G (hg19) chr12:g.49950933C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950933C>G , CM000674.2:g.49950933C>G GRCh38
NC_000012.11:g.50344716C>G , CM000674.1:g.50344716C>G GRCh37
NC_000012.10:g.48630983C>G NCBI36
NG_008913.1:g.5193C>G , LRG_717:g.5193C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.103C>G MANE Select ENSP00000199280.3:p.Pro35Ala
ENST00000199280.3:c.103C>G ENSP00000199280.3:p.Pro35Ala
ENST00000550862.1:c.103C>G ENSP00000450022.1:p.Pro35Ala
ENST00000551526.5:c.103C>G ENSP00000447148.1:p.Pro35Ala
NM_000486.5:c.103C>G , LRG_717t1:c.103C>G NP_000477.1:p.Pro35Ala
NM_000486.6:c.103C>G MANE Select NP_000477.1:p.Pro35Ala
Search 100 bp 5'
Search 100 bp 3'