Linked Data
ClinVar Variation Id:
2239
ClinVar RCV Id:
RCV000002327
dbSNP Id:
rs796065030
gnomAD v4:
1-183574587-T-TTC
MyVariant Identifiers:
chr1:g.183543723_183543724dupTC (hg19)
chr1:g.183543722_183543723insTC (hg19)
chr1:g.183574588_183574589dupTC (hg38)
chr1:g.183574587_183574588insTC (hg38)
PubMed:
PMID:7795241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183574589_183574590dup , CM000663.2:g.183574589_183574590dup | GRCh38 |
| NC_000001.10:g.183543724_183543725dup , CM000663.1:g.183543724_183543725dup | GRCh37 |
| NC_000001.9:g.181810347_181810348dup | NCBI36 |
| NG_007267.1:g.20993_20994dup , LRG_88:g.20993_20994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697329.1:n.319_320dup (NCF2) | ||
| ENST00000697330.1:c.399_400dup (NCF2) | ENSP00000513258.1:p.Lys134ArgfsTer12 | |
| ENST00000697351.1:c.399_400dup (NCF2) | ENSP00000513276.1:p.Lys134ArgfsTer12 | |
| ENST00000697352.1:n.499_500dup (NCF2) | ||
| ENST00000697353.1:n.512_513dup (NCF2) | ||
| ENST00000367535.8:c.399_400dup (NCF2) MANE Select | ENSP00000356505.4:p.Lys134ArgfsTer12 | |
| ENST00000367535.7:c.399_400dup (NCF2) | ENSP00000356505.3:p.Lys134ArgfsTer12 | |
| ENST00000367536.5:c.399_400dup (NCF2) | ENSP00000356506.1:p.Lys134ArgfsTer12 | |
| ENST00000413720.5:c.367-1297_367-1296dup (NCF2) | ENSP00000399294.1:n.367-1297_367-1296dup | |
| ENST00000418089.5:c.366+3010_366+3011dup (NCF2) | ENSP00000407217.1:n.366+3010_366+3011dup | |
| ENST00000495321.1:n.234-23180_234-23179dup (SMG7) | ||
| NM_000433.3:c.399_400dup , LRG_88t1:c.399_400dup (NCF2) | NP_000424.2:p.Lys134ArgfsTer12 | |
| NM_001127651.2:c.399_400dup (NCF2) | NP_001121123.1:p.Lys134ArgfsTer12 | |
| NM_001190789.1:c.366+3010_366+3011dup (NCF2) | NP_001177718.1:n.366+3010_366+3011dup | |
| NM_001190794.1:c.367-1297_367-1296dup (NCF2) | NP_001177723.1:n.367-1297_367-1296dup | |
| XM_005245207.1:c.399_400dup (NCF2) | XP_005245264.1:p.Lys134ArgfsTer12 | |
| XM_011509580.1:c.399_400dup (NCF2) | XP_011507882.1:p.Lys134ArgfsTer12 | |
| XM_011509581.1:c.399_400dup (NCF2) | XP_011507883.1:p.Lys134ArgfsTer12 | |
| XR_921801.1:n.603_604dup (NCF2) | ||
| NM_000433.4:c.399_400dup (NCF2) MANE Select | NP_000424.2:p.Lys134ArgfsTer12 | |
| NM_001127651.3:c.399_400dup (NCF2) | NP_001121123.1:p.Lys134ArgfsTer12 | |
| NM_001190789.2:c.366+3010_366+3011dup (NCF2) | NP_001177718.1:n.366+3010_366+3011dup | |
| NM_001190794.2:c.367-1297_367-1296dup (NCF2) | NP_001177723.1:n.367-1297_367-1296dup |