Revel Score:
ENST00000485511 (MANE Select)
0.056
ENST00000394110
0.056
ENST00000472118
0.056
ENST00000541610
0.056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43006514C>T , CM000668.2:g.43006514C>T | GRCh38 |
| NC_000006.11:g.42974252C>T , CM000668.1:g.42974252C>T | GRCh37 |
| NC_000006.10:g.43082230C>T | NCBI36 |
| NG_050636.1:g.27016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485511.6:c.157C>T (PPP2R5D) MANE Select | ENSP00000417963.1:p.Pro53Ser | |
| ENST00000230402.10:c.174C>T (PPP2R5D) | ENSP00000230402.6:p.His58= | |
| ENST00000394110.7:c.157C>T (PPP2R5D) | ENSP00000377669.3:p.Pro53Ser | |
| ENST00000461010.5:c.28-420C>T (PPP2R5D) | ENSP00000420674.1:n.28-420C>T | |
| ENST00000472118.5:c.133C>T (PPP2R5D) | ENSP00000420550.1:p.Pro45Ser | |
| ENST00000485511.5:c.157C>T (PPP2R5D) | ENSP00000417963.1:p.Pro53Ser | |
| NM_001270476.1:c.-297C>T (PPP2R5D) | NP_001257405.1:n.-297C>T | |
| NM_006245.3:c.157C>T (PPP2R5D) | NP_006236.1:p.Pro53Ser | |
| NM_180976.2:c.157C>T (PPP2R5D) | NP_851307.1:p.Pro53Ser | |
| NM_180977.2:c.28-420C>T (PPP2R5D) | NP_851308.1:n.28-420C>T | |
| XM_005249123.1:c.367+6412G>A (MEA1) | XP_005249180.1:n.367+6412G>A | |
| XM_017010868.1:c.367+6412G>A (MEA1) | XP_016866357.1:n.367+6412G>A | |
| NM_006245.4:c.157C>T (PPP2R5D) MANE Select | NP_006236.1:p.Pro53Ser | |
| NM_001270476.2:c.-297C>T (PPP2R5D) | NP_001257405.1:n.-297C>T | |
| NM_180976.3:c.157C>T (PPP2R5D) | NP_851307.1:p.Pro53Ser | |
| NM_180977.3:c.28-420C>T (PPP2R5D) | NP_851308.1:n.28-420C>T |