Revel Score:
ENST00000367536
0.046
ENST00000392014
0.046
ENST00000413720
0.046
ENST00000367535 (MANE Select)
0.046
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183573252T>A , CM000663.2:g.183573252T>A | GRCh38 |
| NC_000001.10:g.183542387T>A , CM000663.1:g.183542387T>A | GRCh37 |
| NC_000001.9:g.181809010T>A | NCBI36 |
| NG_007267.1:g.22330A>T , LRG_88:g.22330A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697329.1:n.462A>T (NCF2) | ||
| ENST00000697330.1:c.542A>T (NCF2) | ENSP00000513258.1:p.Lys181Met | |
| ENST00000697351.1:c.501+1235A>T (NCF2) | ENSP00000513276.1:n.501+1235A>T | |
| ENST00000367535.8:c.542A>T (NCF2) MANE Select | ENSP00000356505.4:p.Lys181Met | |
| ENST00000367535.7:c.542A>T (NCF2) | ENSP00000356505.3:p.Lys181Met | |
| ENST00000367536.5:c.542A>T (NCF2) | ENSP00000356506.1:p.Lys181Met | |
| ENST00000413720.5:c.407A>T (NCF2) | ENSP00000399294.1:p.Lys136Met | |
| ENST00000418089.5:c.367-2413A>T (NCF2) | ENSP00000407217.1:n.367-2413A>T | |
| ENST00000495321.1:n.233+22062T>A (SMG7) | ||
| NM_000433.3:c.542A>T , LRG_88t1:c.542A>T (NCF2) | NP_000424.2:p.Lys181Met | |
| NM_001127651.2:c.542A>T (NCF2) | NP_001121123.1:p.Lys181Met | |
| NM_001190789.1:c.367-2413A>T (NCF2) | NP_001177718.1:n.367-2413A>T | |
| NM_001190794.1:c.407A>T (NCF2) | NP_001177723.1:p.Lys136Met | |
| XM_005245207.1:c.501+1235A>T (NCF2) | XP_005245264.1:n.501+1235A>T | |
| XM_011509580.1:c.542A>T (NCF2) | XP_011507882.1:p.Lys181Met | |
| XM_011509581.1:c.542A>T (NCF2) | XP_011507883.1:p.Lys181Met | |
| XR_921801.1:n.746A>T (NCF2) | ||
| NM_000433.4:c.542A>T (NCF2) MANE Select | NP_000424.2:p.Lys181Met | |
| NM_001127651.3:c.542A>T (NCF2) | NP_001121123.1:p.Lys181Met | |
| NM_001190789.2:c.367-2413A>T (NCF2) | NP_001177718.1:n.367-2413A>T | |
| NM_001190794.2:c.407A>T (NCF2) | NP_001177723.1:p.Lys136Met |