Linked Data
ClinVar Variation Id:
294072
ClinVar RCV Id:
RCV000387216
dbSNP Id:
rs367946786
gnomAD v2:
1-183525156-T-G
gnomAD v3:
1-183556021-T-G
gnomAD v4:
1-183556021-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183556021T>G , CM000663.2:g.183556021T>G | GRCh38 |
| NC_000001.10:g.183525156T>G , CM000663.1:g.183525156T>G | GRCh37 |
| NC_000001.9:g.181791779T>G | NCBI36 |
| NG_007267.1:g.39561A>C , LRG_88:g.39561A>C | |
| NG_029808.1:g.88651T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469280.2:n.1118A>C (NCF2) | ||
| ENST00000697329.1:n.1598A>C (NCF2) | ||
| ENST00000697330.1:c.*97A>C (NCF2) | ENSP00000513258.1:n.*97A>C | |
| ENST00000697351.1:c.*97A>C (NCF2) | ENSP00000513276.1:n.*97A>C | |
| ENST00000367535.8:c.*97A>C (NCF2) MANE Select | ENSP00000356505.4:n.*97A>C | |
| ENST00000367535.7:c.*97A>C (NCF2) | ENSP00000356505.3:n.*97A>C | |
| ENST00000367536.5:c.*97A>C (NCF2) | ENSP00000356506.1:n.*97A>C | |
| ENST00000413720.5:c.*97A>C (NCF2) | ENSP00000399294.1:n.*97A>C | |
| ENST00000418089.5:c.*97A>C (NCF2) | ENSP00000407217.1:n.*97A>C | |
| ENST00000495321.1:n.233+4831T>G (SMG7) | ||
| NM_000433.3:c.*97A>C , LRG_88t1:c.*97A>C (NCF2) | NP_000424.2:n.*97A>C | |
| NM_001127651.2:c.*97A>C (NCF2) | NP_001121123.1:n.*97A>C | |
| NM_001190789.1:c.*97A>C (NCF2) | NP_001177718.1:n.*97A>C | |
| NM_001190794.1:c.*97A>C (NCF2) | NP_001177723.1:n.*97A>C | |
| XM_005245207.1:c.*97A>C (NCF2) | XP_005245264.1:n.*97A>C | |
| XM_011509580.1:c.*97A>C (NCF2) | XP_011507882.1:n.*97A>C | |
| XM_011509581.1:c.*97A>C (NCF2) | XP_011507883.1:n.*97A>C | |
| NM_000433.4:c.*97A>C (NCF2) MANE Select | NP_000424.2:n.*97A>C | |
| NM_001127651.3:c.*97A>C (NCF2) | NP_001121123.1:n.*97A>C | |
| NM_001190789.2:c.*97A>C (NCF2) | NP_001177718.1:n.*97A>C | |
| NM_001190794.2:c.*97A>C (NCF2) | NP_001177723.1:n.*97A>C |