Canonical Allele Identifier: CA384772177
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49951069-A-G
MyVariant Identifiers: chr12:g.50344852A>G (hg19) chr12:g.49951069A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951069A>G , CM000674.2:g.49951069A>G GRCh38
NC_000012.11:g.50344852A>G , CM000674.1:g.50344852A>G GRCh37
NC_000012.10:g.48631119A>G NCBI36
NG_008913.1:g.5329A>G , LRG_717:g.5329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.239A>G MANE Select ENSP00000199280.3:p.His80Arg
ENST00000199280.3:c.239A>G ENSP00000199280.3:p.His80Arg
ENST00000550862.1:c.239A>G ENSP00000450022.1:p.His80Arg
ENST00000551526.5:c.239A>G ENSP00000447148.1:p.His80Arg
NM_000486.5:c.239A>G , LRG_717t1:c.239A>G NP_000477.1:p.His80Arg
NM_000486.6:c.239A>G MANE Select NP_000477.1:p.His80Arg
Search 100 bp 5'
Search 100 bp 3'