Canonical Allele Identifier: CA127466
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49955438T>C
GRCh37 chr12:g.50349221T>C
Revel Score:
ENST00000199280 (MANE Select) 0.816
gnomAD v2:
12:50349221 T / C
gnomAD v4:
chr12-49955438-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000019407
ClinVar Variation:
17829
dbSNP:
104894329
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49955438T>C , CM000674.2:g.49955438T>C GRCh38
NC_000012.11:g.50349221T>C , CM000674.1:g.50349221T>C GRCh37
NC_000012.10:g.48635488T>C NCBI36
NG_008913.1:g.9698T>C , LRG_717:g.9698T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.646T>C (AQP2) MANE Select ENSP00000199280.3:p.Ser216Pro
ENST00000199280.3:c.646T>C (AQP2) ENSP00000199280.3:p.Ser216Pro
ENST00000551526.5:c.631+15T>C (AQP2) ENSP00000447148.1:n.631+15T>C
NM_000486.5:c.646T>C , LRG_717t1:c.646T>C (AQP2) NP_000477.1:p.Ser216Pro
NR_110590.1:n.257-1090A>G (AQP5-AS1)
NR_110591.1:n.118-3350A>G (AQP5-AS1)
NM_000486.6:c.646T>C (AQP2) MANE Select NP_000477.1:p.Ser216Pro
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