Canonical Allele Identifier: CA236731461
Gene: AQP2 HGNC NCBI

Linked Data

dbSNP Id: rs1053582258
gnomAD v3: 12-49951064-C-T
gnomAD v4: 12-49951064-C-T
MyVariant Identifiers: chr12:g.50344847C>T (hg19) chr12:g.49951064C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951064C>T , CM000674.2:g.49951064C>T GRCh38
NC_000012.11:g.50344847C>T , CM000674.1:g.50344847C>T GRCh37
NC_000012.10:g.48631114C>T NCBI36
NG_008913.1:g.5324C>T , LRG_717:g.5324C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.234C>T MANE Select ENSP00000199280.3:p.Gly78=
ENST00000199280.3:c.234C>T ENSP00000199280.3:p.Gly78=
ENST00000550862.1:c.234C>T ENSP00000450022.1:p.Gly78=
ENST00000551526.5:c.234C>T ENSP00000447148.1:p.Gly78=
NM_000486.5:c.234C>T , LRG_717t1:c.234C>T NP_000477.1:p.Gly78=
NM_000486.6:c.234C>T MANE Select NP_000477.1:p.Gly78=
Search 100 bp 5'
Search 100 bp 3'