Canonical Allele Identifier: CA127464
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49954663C>T
GRCh37 chr12:g.50348446C>T
Revel Score:
ENST00000199280 (MANE Select) 0.844
ENST00000550862 0.844
gnomAD v2:
12:50348446 C / T
gnomAD v3:
12:49954663 C / T
gnomAD v4:
chr12-49954663-C-T
Joint Max Group AF 0.00003259 (NFE)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00003257 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49954663C>T , CM000674.2:g.49954663C>T GRCh38
NC_000012.11:g.50348446C>T , CM000674.1:g.50348446C>T GRCh37
NC_000012.10:g.48634713C>T NCBI36
NG_008913.1:g.8923C>T , LRG_717:g.8923C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.559C>T (AQP2) MANE Select ENSP00000199280.3:p.Arg187Cys
ENST00000199280.3:c.559C>T (AQP2) ENSP00000199280.3:p.Arg187Cys
ENST00000550862.1:c.685C>T (AQP2) ENSP00000450022.1:p.Arg229Cys
ENST00000551526.5:c.559C>T (AQP2) ENSP00000447148.1:p.Arg187Cys
NM_000486.5:c.559C>T , LRG_717t1:c.559C>T (AQP2) NP_000477.1:p.Arg187Cys
NR_110590.1:n.257-315G>A (AQP5-AS1)
NR_110591.1:n.118-2575G>A (AQP5-AS1)
NM_000486.6:c.559C>T (AQP2) MANE Select NP_000477.1:p.Arg187Cys
Search 100 bp 5'
Search 100 bp 3'