Canonical Allele Identifier: CA10633046
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49957170T>C
GRCh37 chr12:g.50350953T>C
gnomAD v2:
12:50350953 T / C
gnomAD v3:
12:49957170 T / C
gnomAD v4:
chr12-49957170-T-C
Joint Max Group AF 0.98875013 (NFE)
Genomes Max Group AF 0.98874947 (NFE)
Exomes Max Group AF 0.34157938 (NFE)
ClinVar RCV:
RCV000386906
ClinVar Variation:
309255
dbSNP:
296766
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49957170T>C , CM000674.2:g.49957170T>C GRCh38
NC_000012.11:g.50350953T>C , CM000674.1:g.50350953T>C GRCh37
NC_000012.10:g.48637220T>C NCBI36
NG_008913.1:g.11430T>C , LRG_717:g.11430T>C
NG_033883.1:g.675T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.*1562T>C (AQP2) MANE Select ENSP00000199280.3:n.*1562T>C
ENST00000199280.3:c.*1562T>C (AQP2) ENSP00000199280.3:n.*1562T>C
ENST00000551526.5:c.*115-318T>C (AQP2) ENSP00000447148.1:n.*115-318T>C
NM_000486.5:c.*1562T>C , LRG_717t1:c.*1562T>C (AQP2) NP_000477.1:n.*1562T>C
NR_110590.1:n.257-2822A>G (AQP5-AS1)
NR_110591.1:n.118-5082A>G (AQP5-AS1)
NM_000486.6:c.*1562T>C (AQP2) MANE Select NP_000477.1:n.*1562T>C
Search 100 bp 5'
Search 100 bp 3'