Canonical Allele Identifier: CA604909796
Gene: AQP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1526141
ClinVar RCV Id: RCV002052161
dbSNP Id: rs1337669269
gnomAD v2: 12-50344738-TAC-T
gnomAD v4: 12-49950955-TAC-T
MyVariant Identifiers: chr12:g.50344739_50344740del (hg19) chr12:g.49950956_49950957del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950957_49950958del , CM000674.2:g.49950957_49950958del GRCh38
NC_000012.11:g.50344740_50344741del , CM000674.1:g.50344740_50344741del GRCh37
NC_000012.10:g.48631007_48631008del NCBI36
NG_008913.1:g.5217_5218del , LRG_717:g.5217_5218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.127_128del MANE Select ENSP00000199280.3:p.Gln43AspfsTer?
ENST00000199280.3:c.127_128del ENSP00000199280.3:p.Gln43AspfsTer?
ENST00000550862.1:c.127_128del ENSP00000450022.1:p.Gln43AspfsTer?
ENST00000551526.5:c.127_128del ENSP00000447148.1:p.Gln43AspfsTer?
NM_000486.5:c.127_128del , LRG_717t1:c.127_128del NP_000477.1:p.Gln43AspfsTer?
NM_000486.6:c.127_128del MANE Select NP_000477.1:p.Gln43AspfsTer?
Search 100 bp 5'
Search 100 bp 3'