Revel Score:
ENST00000252102 (MANE Select)
0.818
ENST00000512088
0.818
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140647330T>G , CM000667.2:g.140647330T>G | GRCh38 |
| NC_000005.9:g.140026915T>G , CM000667.1:g.140026915T>G | GRCh37 |
| NC_000005.8:g.140007099T>G | NCBI36 |
| NG_021417.1:g.5456A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252102.9:c.134A>C (NDUFA2) MANE Select | ENSP00000252102.5:p.Lys45Thr | |
| ENST00000252102.8:c.134A>C (NDUFA2) | ENSP00000252102.4:p.Lys45Thr | |
| ENST00000502960.1:n.442A>C (NDUFA2) | ||
| ENST00000512088.1:c.134A>C (NDUFA2) | ENSP00000427220.1:p.Lys45Thr | |
| ENST00000513256.5:c.4+21T>G (IK) | ENSP00000425564.1:n.4+21T>G | |
| NM_001185012.1:c.134A>C (NDUFA2) | NP_001171941.1:p.Lys45Thr | |
| NM_002488.4:c.134A>C (NDUFA2) | NP_002479.1:p.Lys45Thr | |
| NR_033697.1:n.456A>C (NDUFA2) | ||
| XM_011537663.2:c.*513T>G (TMCO6) | XP_011535965.1:n.*513T>G | |
| NM_002488.5:c.134A>C (NDUFA2) MANE Select | NP_002479.1:p.Lys45Thr | |
| NM_001185012.2:c.134A>C (NDUFA2) | NP_001171941.1:p.Lys45Thr | |
| NR_033697.2:n.301A>C (NDUFA2) |