Canonical Allele Identifier: CA10633032
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49955982C>T
GRCh37 chr12:g.50349765C>T
gnomAD v2:
12:50349765 C / T
gnomAD v3:
12:49955982 C / T
gnomAD v4:
chr12-49955982-C-T
Joint Max Group AF 0.71457158 (NFE)
Genomes Max Group AF 0.71320373 (NFE)
Exomes Max Group AF 0.71356151 (NFE)
ClinVar RCV:
RCV000401240
ClinVar Variation:
309241
dbSNP:
467323
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49955982C>T , CM000674.2:g.49955982C>T GRCh38
NC_000012.11:g.50349765C>T , CM000674.1:g.50349765C>T GRCh37
NC_000012.10:g.48636032C>T NCBI36
NG_008913.1:g.10242C>T , LRG_717:g.10242C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.*374C>T (AQP2) MANE Select ENSP00000199280.3:n.*374C>T
ENST00000199280.3:c.*374C>T (AQP2) ENSP00000199280.3:n.*374C>T
ENST00000551526.5:c.*114+42C>T (AQP2) ENSP00000447148.1:n.*114+42C>T
NM_000486.5:c.*374C>T , LRG_717t1:c.*374C>T (AQP2) NP_000477.1:n.*374C>T
NR_110590.1:n.257-1634G>A (AQP5-AS1)
NR_110591.1:n.118-3894G>A (AQP5-AS1)
NM_000486.6:c.*374C>T (AQP2) MANE Select NP_000477.1:n.*374C>T
Search 100 bp 5'
Search 100 bp 3'