Canonical Allele Identifier: CA689626206
Gene: AQP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2113020
ClinVar RCV Id: RCV003038559
dbSNP Id: rs1294731623
gnomAD v3: 12-49951088-CGCCTTCTACGTGGCTGCCCAGCT-C
gnomAD v4: 12-49951088-CGCCTTCTACGTGGCTGCCCAGCT-C
MyVariant Identifiers: chr12:g.50344872_50344894del (hg19) chr12:g.49951089_49951111del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951091_49951113del , CM000674.2:g.49951091_49951113del GRCh38
NC_000012.11:g.50344874_50344896del , CM000674.1:g.50344874_50344896del GRCh37
NC_000012.10:g.48631141_48631163del NCBI36
NG_008913.1:g.5351_5373del , LRG_717:g.5351_5373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.261_283del MANE Select ENSP00000199280.3:p.Phe88GlyfsTer11
ENST00000199280.3:c.261_283del ENSP00000199280.3:p.Phe88GlyfsTer11
ENST00000550862.1:c.261_283del ENSP00000450022.1:p.Phe88GlyfsTer11
ENST00000551526.5:c.261_283del ENSP00000447148.1:p.Phe88GlyfsTer11
NM_000486.5:c.261_283del , LRG_717t1:c.261_283del NP_000477.1:p.Phe88GlyfsTer11
NM_000486.6:c.261_283del MANE Select NP_000477.1:p.Phe88GlyfsTer11
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