Canonical Allele Identifier: CA479726646
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI

Linked Data

gnomAD v4: 12-49954319-G-T
COSMIC: COSM4976218
MyVariant Identifiers: chr12:g.50348102G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49954319G>T , CM000674.2:g.49954319G>T GRCh38
NC_000012.11:g.50348102G>T , CM000674.1:g.50348102G>T GRCh37
NC_000012.10:g.48634369G>T NCBI36
NG_008913.1:g.8579G>T , LRG_717:g.8579G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.525G>T (AQP2) MANE Select ENSP00000199280.3:p.Gly175=
ENST00000199280.3:c.525G>T (AQP2) ENSP00000199280.3:p.Gly175=
ENST00000550862.1:c.525G>T (AQP2) ENSP00000450022.1:p.Gly175=
ENST00000551526.5:c.525G>T (AQP2) ENSP00000447148.1:p.Gly175=
NM_000486.5:c.525G>T , LRG_717t1:c.525G>T (AQP2) NP_000477.1:p.Gly175=
NR_110590.1:n.286C>A (AQP5-AS1)
NR_110591.1:n.118-2231C>A (AQP5-AS1)
NM_000486.6:c.525G>T (AQP2) MANE Select NP_000477.1:p.Gly175=
Search 100 bp 5'
Search 100 bp 3'