Canonical Allele Identifier: CA2035390652
Gene: AQP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951045_49951047delinsCTG , CM000674.2:g.49951045_49951047delinsCTG GRCh38
NC_000012.11:g.50344828_50344830delinsCTG , CM000674.1:g.50344828_50344830delinsCTG GRCh37
NC_000012.10:g.48631095_48631097delinsCTG NCBI36
NG_008913.1:g.5305_5307delinsCTG , LRG_717:g.5305_5307delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.215_217delinsCTG MANE Select ENSP00000199280.3:p.Thr72=
ENST00000199280.3:c.215_217delinsCTG ENSP00000199280.3:p.Thr72=
ENST00000550862.1:c.215_217delinsCTG ENSP00000450022.1:p.Thr72=
ENST00000551526.5:c.215_217delinsCTG ENSP00000447148.1:p.Thr72=
NM_000486.5:c.215_217delinsCTG , LRG_717t1:c.215_217delinsCTG NP_000477.1:p.Thr72=
NM_000486.6:c.215_217delinsCTG MANE Select NP_000477.1:p.Thr72=
Search 100 bp 5'
Search 100 bp 3'