Canonical Allele Identifier: CA127480
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.49954168C>T
GRCh37 chr12:g.50347951C>T
GRCh37 chr12:g.50347951_50347952delinsTG
Revel Score:
ENST00000199280 (MANE Select) 0.618
ENST00000550862 0.618
gnomAD v2:
12:50347951 C / T
gnomAD v3:
12:49954168 C / T
gnomAD v4:
chr12-49954168-C-T
Joint Max Group AF 0.00002547 (AFR)
Genomes Max Group AF 0.00003242 (AFR)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000019415
RCV001230668
ClinVar Variation:
17837
dbSNP:
104894333
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49954168C>T , CM000674.2:g.49954168C>T GRCh38
NC_000012.11:g.50347951C>T , CM000674.1:g.50347951C>T GRCh37
NC_000012.10:g.48634218C>T NCBI36
NG_008913.1:g.8428C>T , LRG_717:g.8428C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.374C>T (AQP2) MANE Select ENSP00000199280.3:p.Thr125Met
ENST00000199280.3:c.374C>T (AQP2) ENSP00000199280.3:p.Thr125Met
ENST00000550862.1:c.374C>T (AQP2) ENSP00000450022.1:p.Thr125Met
ENST00000551526.5:c.374C>T (AQP2) ENSP00000447148.1:p.Thr125Met
NM_000486.5:c.374C>T , LRG_717t1:c.374C>T (AQP2) NP_000477.1:p.Thr125Met
NR_110590.1:n.437G>A (AQP5-AS1)
NR_110591.1:n.118-2080G>A (AQP5-AS1)
NM_000486.6:c.374C>T (AQP2) MANE Select NP_000477.1:p.Thr125Met
Search 100 bp 5'
Search 100 bp 3'