ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183563302_183563303delinsAG , CM000663.2:g.183563302_183563303delinsAG | GRCh38 |
| NC_000001.10:g.183532437_183532438delinsAG , CM000663.1:g.183532437_183532438delinsAG | GRCh37 |
| NC_000001.9:g.181799060_181799061delinsAG | NCBI36 |
| NG_007267.1:g.32279_32280delinsCT , LRG_88:g.32279_32280delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469280.2:n.622_623delinsCT (NCF2) | ||
| ENST00000697329.1:n.1102_1103delinsCT (NCF2) | ||
| ENST00000697330.1:c.1182_1183delinsCT (NCF2) | ENSP00000513258.1:p.Arg395Trp | |
| ENST00000697351.1:c.1074_1075delinsCT (NCF2) | ENSP00000513276.1:p.Arg359Trp | |
| ENST00000367535.8:c.1182_1183delinsCT (NCF2) MANE Select | ENSP00000356505.4:p.Arg395Trp | |
| ENST00000367535.7:c.1182_1183delinsCT (NCF2) | ENSP00000356505.3:p.Arg395Trp | |
| ENST00000367536.5:c.1182_1183delinsCT (NCF2) | ENSP00000356506.1:p.Arg395Trp | |
| ENST00000413720.5:c.1047_1048delinsCT (NCF2) | ENSP00000399294.1:p.Arg350Trp | |
| ENST00000418089.5:c.939_940delinsCT (NCF2) | ENSP00000407217.1:p.Arg314Trp | |
| ENST00000419402.1:c.399_400delinsCT (NCF2) | ENSP00000406198.1:p.Arg134Trp | |
| ENST00000420553.5:c.135_136delinsCT (NCF2) | ENSP00000397228.1:p.Arg46Trp | |
| ENST00000469280.1:n.622_623delinsCT (NCF2) | ||
| ENST00000495321.1:n.233+12112_233+12113delinsAG (SMG7) | ||
| NM_000433.3:c.1182_1183delinsCT , LRG_88t1:c.1182_1183delinsCT (NCF2) | NP_000424.2:p.Arg395Trp | |
| NM_001127651.2:c.1182_1183delinsCT (NCF2) | NP_001121123.1:p.Arg395Trp | |
| NM_001190789.1:c.939_940delinsCT (NCF2) | NP_001177718.1:p.Arg314Trp | |
| NM_001190794.1:c.1047_1048delinsCT (NCF2) | NP_001177723.1:p.Arg350Trp | |
| XM_005245207.1:c.1074_1075delinsCT (NCF2) | XP_005245264.1:p.Arg359Trp | |
| XM_011509580.1:c.1182_1183delinsCT (NCF2) | XP_011507882.1:p.Arg395Trp | |
| XM_011509581.1:c.1182_1183delinsCT (NCF2) | XP_011507883.1:p.Arg395Trp | |
| XR_921801.1:n.1244_1245delinsCT (NCF2) | ||
| NM_000433.4:c.1182_1183delinsCT (NCF2) MANE Select | NP_000424.2:p.Arg395Trp | |
| NM_001127651.3:c.1182_1183delinsCT (NCF2) | NP_001121123.1:p.Arg395Trp | |
| NM_001190789.2:c.939_940delinsCT (NCF2) | NP_001177718.1:p.Arg314Trp | |
| NM_001190794.2:c.1047_1048delinsCT (NCF2) | NP_001177723.1:p.Arg350Trp |