Revel Score:
ENST00000199280 (MANE Select)
0.267
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49955577C>G , CM000674.2:g.49955577C>G | GRCh38 |
| NC_000012.11:g.50349360C>G , CM000674.1:g.50349360C>G | GRCh37 |
| NC_000012.10:g.48635627C>G | NCBI36 |
| NG_008913.1:g.9837C>G , LRG_717:g.9837C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.785C>G (AQP2) MANE Select | ENSP00000199280.3:p.Pro262Arg | |
| ENST00000199280.3:c.785C>G (AQP2) | ENSP00000199280.3:p.Pro262Arg | |
| ENST00000551526.5:c.631+154C>G (AQP2) | ENSP00000447148.1:n.631+154C>G | |
| NM_000486.5:c.785C>G , LRG_717t1:c.785C>G (AQP2) | NP_000477.1:p.Pro262Arg | |
| NR_110590.1:n.257-1229G>C (AQP5-AS1) | ||
| NR_110591.1:n.118-3489G>C (AQP5-AS1) | ||
| NM_000486.6:c.785C>G (AQP2) MANE Select | NP_000477.1:p.Pro262Arg |