Linked Data
ClinVar Variation Id:
2246
ClinVar RCV Id:
RCV000002334
dbSNP Id:
rs119103274
gnomAD v2:
1-183543740-G-A
gnomAD v3:
1-183574605-G-A
gnomAD v4:
1-183574605-G-A
PubMed:
PMID:10598813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183574605G>A , CM000663.2:g.183574605G>A | GRCh38 |
| NC_000001.10:g.183543740G>A , CM000663.1:g.183543740G>A | GRCh37 |
| NC_000001.9:g.181810363G>A | NCBI36 |
| NG_007267.1:g.20977C>T , LRG_88:g.20977C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697329.1:n.303C>T (NCF2) | ||
| ENST00000697330.1:c.383C>T (NCF2) | ENSP00000513258.1:p.Ala128Val | |
| ENST00000697351.1:c.383C>T (NCF2) | ENSP00000513276.1:p.Ala128Val | |
| ENST00000697352.1:n.483C>T (NCF2) | ||
| ENST00000697353.1:n.496C>T (NCF2) | ||
| ENST00000367535.8:c.383C>T (NCF2) MANE Select | ENSP00000356505.4:p.Ala128Val | |
| ENST00000367535.7:c.383C>T (NCF2) | ENSP00000356505.3:p.Ala128Val | |
| ENST00000367536.5:c.383C>T (NCF2) | ENSP00000356506.1:p.Ala128Val | |
| ENST00000413720.5:c.367-1313C>T (NCF2) | ENSP00000399294.1:n.367-1313C>T | |
| ENST00000418089.5:c.366+2994C>T (NCF2) | ENSP00000407217.1:n.366+2994C>T | |
| ENST00000495321.1:n.234-23164G>A (SMG7) | ||
| NM_000433.3:c.383C>T , LRG_88t1:c.383C>T (NCF2) | NP_000424.2:p.Ala128Val | |
| NM_001127651.2:c.383C>T (NCF2) | NP_001121123.1:p.Ala128Val | |
| NM_001190789.1:c.366+2994C>T (NCF2) | NP_001177718.1:n.366+2994C>T | |
| NM_001190794.1:c.367-1313C>T (NCF2) | NP_001177723.1:n.367-1313C>T | |
| XM_005245207.1:c.383C>T (NCF2) | XP_005245264.1:p.Ala128Val | |
| XM_011509580.1:c.383C>T (NCF2) | XP_011507882.1:p.Ala128Val | |
| XM_011509581.1:c.383C>T (NCF2) | XP_011507883.1:p.Ala128Val | |
| XR_921801.1:n.587C>T (NCF2) | ||
| NM_000433.4:c.383C>T (NCF2) MANE Select | NP_000424.2:p.Ala128Val | |
| NM_001127651.3:c.383C>T (NCF2) | NP_001121123.1:p.Ala128Val | |
| NM_001190789.2:c.366+2994C>T (NCF2) | NP_001177718.1:n.366+2994C>T | |
| NM_001190794.2:c.367-1313C>T (NCF2) | NP_001177723.1:n.367-1313C>T |