Canonical Allele Identifier: CA2580086371
Gene: AQP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1998571
ClinVar RCV Id: RCV002796928
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950932_49950934del , CM000674.2:g.49950932_49950934del GRCh38
NC_000012.11:g.50344715_50344717del , CM000674.1:g.50344715_50344717del GRCh37
NC_000012.10:g.48630982_48630984del NCBI36
NG_008913.1:g.5192_5194del , LRG_717:g.5192_5194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.102_104del MANE Select ENSP00000199280.3:p.Trp34Ter
ENST00000199280.3:c.102_104del ENSP00000199280.3:p.Trp34Ter
ENST00000550862.1:c.102_104del ENSP00000450022.1:p.Trp34Ter
ENST00000551526.5:c.102_104del ENSP00000447148.1:p.Trp34Ter
NM_000486.5:c.102_104del , LRG_717t1:c.102_104del NP_000477.1:p.Trp34Ter
NM_000486.6:c.102_104del MANE Select NP_000477.1:p.Trp34Ter
Search 100 bp 5'
Search 100 bp 3'