Canonical Allele Identifier: CA384771727
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49950928-A-G
MyVariant Identifiers: chr12:g.50344711A>G (hg19) chr12:g.49950928A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950928A>G , CM000674.2:g.49950928A>G GRCh38
NC_000012.11:g.50344711A>G , CM000674.1:g.50344711A>G GRCh37
NC_000012.10:g.48630978A>G NCBI36
NG_008913.1:g.5188A>G , LRG_717:g.5188A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.98A>G MANE Select ENSP00000199280.3:p.Asn33Ser
ENST00000199280.3:c.98A>G ENSP00000199280.3:p.Asn33Ser
ENST00000550862.1:c.98A>G ENSP00000450022.1:p.Asn33Ser
ENST00000551526.5:c.98A>G ENSP00000447148.1:p.Asn33Ser
NM_000486.5:c.98A>G , LRG_717t1:c.98A>G NP_000477.1:p.Asn33Ser
NM_000486.6:c.98A>G MANE Select NP_000477.1:p.Asn33Ser
Search 100 bp 5'
Search 100 bp 3'