Revel Score:
ENST00000485511 (MANE Select)
0.794
ENST00000394110
0.794
ENST00000472118
0.794
ENST00000541610
0.794
ENST00000461010
0.794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43007960A>C , CM000668.2:g.43007960A>C | GRCh38 |
| NC_000006.11:g.42975698A>C , CM000668.1:g.42975698A>C | GRCh37 |
| NC_000006.10:g.43083676A>C | NCBI36 |
| NG_050636.1:g.28462A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485511.6:c.752A>C (PPP2R5D) MANE Select | ENSP00000417963.1:p.Asp251Ala | |
| ENST00000676174.1:n.411A>C (PPP2R5D) | ||
| ENST00000230402.10:c.*433A>C (PPP2R5D) | ENSP00000230402.6:n.*433A>C | |
| ENST00000394110.7:c.656A>C (PPP2R5D) | ENSP00000377669.3:p.Asp219Ala | |
| ENST00000461010.5:c.434A>C (PPP2R5D) | ENSP00000420674.1:p.Asp145Ala | |
| ENST00000467447.1:n.329A>C (PPP2R5D) | ||
| ENST00000470467.5:c.510A>C (PPP2R5D) | ||
| ENST00000472118.5:c.728A>C (PPP2R5D) | ENSP00000420550.1:p.Asp243Ala | |
| ENST00000485511.5:c.752A>C (PPP2R5D) | ENSP00000417963.1:p.Asp251Ala | |
| NM_001270476.1:c.299A>C (PPP2R5D) | NP_001257405.1:p.Asp100Ala | |
| NM_006245.3:c.752A>C (PPP2R5D) | NP_006236.1:p.Asp251Ala | |
| NM_180976.2:c.656A>C (PPP2R5D) | NP_851307.1:p.Asp219Ala | |
| NM_180977.2:c.434A>C (PPP2R5D) | NP_851308.1:p.Asp145Ala | |
| XM_005249123.1:c.367+4966T>G (MEA1) | XP_005249180.1:n.367+4966T>G | |
| XM_017010868.1:c.367+4966T>G (MEA1) | XP_016866357.1:n.367+4966T>G | |
| NM_006245.4:c.752A>C (PPP2R5D) MANE Select | NP_006236.1:p.Asp251Ala | |
| NM_001270476.2:c.299A>C (PPP2R5D) | NP_001257405.1:p.Asp100Ala | |
| NM_180976.3:c.656A>C (PPP2R5D) | NP_851307.1:p.Asp219Ala | |
| NM_180977.3:c.434A>C (PPP2R5D) | NP_851308.1:p.Asp145Ala |