Revel Score:
ENST00000269143 (MANE Select)
0.894
ENST00000537174
0.894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12340220G>A , CM000680.2:g.12340220G>A | GRCh38 |
| NC_000018.9:g.12340219G>A , CM000680.1:g.12340219G>A | GRCh37 |
| NC_000018.8:g.12330219G>A | NCBI36 |
| NG_023361.1:g.42057C>T , LRG_666:g.42057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1557C>T (AFG3L2) | ENSP00000508998.1:n.*1557C>T | |
| ENST00000687477.1:n.497C>T (AFG3L2) | ||
| ENST00000688199.1:c.1823C>T (AFG3L2) | ENSP00000510237.1:p.Thr608Ile | |
| ENST00000691179.1:c.1886C>T (AFG3L2) | ENSP00000509010.1:p.Thr629Ile | |
| ENST00000691970.1:c.*1338C>T (AFG3L2) | ENSP00000508440.1:n.*1338C>T | |
| ENST00000692497.1:c.*391C>T (AFG3L2) | ENSP00000509870.1:n.*391C>T | |
| ENST00000692988.1:n.1779C>T (AFG3L2) | ||
| ENST00000269143.8:c.1961C>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Thr654Ile | |
| ENST00000269143.7:c.1961C>T (AFG3L2) | ENSP00000269143.2:p.Thr654Ile | |
| ENST00000586691.1:c.88-3829G>A (TUBB6) | ||
| NM_006796.2:c.1961C>T , LRG_666t1:c.1961C>T (AFG3L2) | NP_006787.2:p.Thr654Ile | |
| XM_011525601.1:c.1780-2685C>T (AFG3L2) | XP_011523903.1:n.1780-2685C>T | |
| XM_011525601.3:c.1780-2685C>T (AFG3L2) | XP_011523903.1:n.1780-2685C>T | |
| XR_001753363.1:n.415+1640G>A | ||
| XR_002958227.1:n.451+3318G>A | ||
| NM_006796.3:c.1961C>T (AFG3L2) MANE Select | NP_006787.2:p.Thr654Ile |