gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020579 (EAS)
Genomes Max Group AF
0.0001567 (EAS)
Exomes Max Group AF
0.00017448 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12340230T>G , CM000680.2:g.12340230T>G | GRCh38 |
| NC_000018.9:g.12340229T>G , CM000680.1:g.12340229T>G | GRCh37 |
| NC_000018.8:g.12330229T>G | NCBI36 |
| NG_023361.1:g.42047A>C , LRG_666:g.42047A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1547A>C (AFG3L2) | ENSP00000508998.1:n.*1547A>C | |
| ENST00000687477.1:n.487A>C (AFG3L2) | ||
| ENST00000688199.1:c.1813A>C (AFG3L2) | ENSP00000510237.1:p.Arg605= | |
| ENST00000691179.1:c.1876A>C (AFG3L2) | ENSP00000509010.1:p.Arg626= | |
| ENST00000691970.1:c.*1328A>C (AFG3L2) | ENSP00000508440.1:n.*1328A>C | |
| ENST00000692497.1:c.*381A>C (AFG3L2) | ENSP00000509870.1:n.*381A>C | |
| ENST00000692988.1:n.1769A>C (AFG3L2) | ||
| ENST00000269143.8:c.1951A>C (AFG3L2) MANE Select | ENSP00000269143.2:p.Arg651= | |
| ENST00000269143.7:c.1951A>C (AFG3L2) | ENSP00000269143.2:p.Arg651= | |
| ENST00000586691.1:c.88-3819T>G (TUBB6) | ||
| NM_006796.2:c.1951A>C , LRG_666t1:c.1951A>C (AFG3L2) | NP_006787.2:p.Arg651= | |
| XM_011525601.1:c.1780-2695A>C (AFG3L2) | XP_011523903.1:n.1780-2695A>C | |
| XM_011525601.3:c.1780-2695A>C (AFG3L2) | XP_011523903.1:n.1780-2695A>C | |
| XR_001753363.1:n.415+1650T>G | ||
| XR_002958227.1:n.451+3328T>G | ||
| NM_006796.3:c.1951A>C (AFG3L2) MANE Select | NP_006787.2:p.Arg651= |