Linked Data
ClinVar Variation Id:
2095570
ClinVar RCV Id:
RCV003012395
dbSNP Id:
rs186248656
ExAC:
22:50962424 G / C
gnomAD v2:
22-50962424-G-C
gnomAD v3:
22-50523995-G-C
gnomAD v4:
22-50523995-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523995G>C , CM000684.2:g.50523995G>C | GRCh38 |
| NC_000022.10:g.50962424G>C , CM000684.1:g.50962424G>C | GRCh37 |
| NC_000022.9:g.49309290G>C | NCBI36 |
| NG_011860.1:g.11091C>G , LRG_727:g.11091C>G | |
| NG_016235.1:g.7445C>G | |
| NG_021419.1:g.20780G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.417C>G (SCO2) MANE Select | ENSP00000379046.4:p.Asp139Glu | |
| ENST00000420993.7:c.*620G>C (NCAPH2) MANE Select | ENSP00000410088.2:n.*620G>C | |
| ENST00000543927.6:c.417C>G (SCO2) | ENSP00000444433.1:p.Asp139Glu | |
| ENST00000638598.2:c.417C>G (SCO2) | ENSP00000491753.2:p.Asp139Glu | |
| ENST00000252785.3:c.417C>G | ENSP00000252785.3:p.Asp139Glu | |
| ENST00000395693.7:c.417C>G | ENSP00000379046.3:p.Asp139Glu | |
| ENST00000535425.5:c.417C>G | ENSP00000444242.1:p.Asp139Glu | |
| ENST00000543927.5:c.417C>G | ENSP00000444433.1:p.Asp139Glu | |
| NM_001169109.1:c.417C>G (SCO2) | NP_001162580.1:p.Asp139Glu | |
| NM_001169110.1:c.417C>G (SCO2) | NP_001162581.1:p.Asp139Glu | |
| NM_001169111.1:c.417C>G (SCO2) | NP_001162582.1:p.Asp139Glu | |
| NM_001185011.1:c.*620G>C (NCAPH2) | NP_001171940.1:n.*620G>C | |
| NM_005138.2:c.417C>G (SCO2) | NP_005129.2:p.Asp139Glu | |
| NM_152299.3:c.*620G>C (NCAPH2) | NP_689512.2:n.*620G>C | |
| XR_001755232.1:n.2648G>C (NCAPH2) | ||
| NM_152299.4:c.*620G>C (NCAPH2) MANE Select | NP_689512.2:n.*620G>C | |
| NM_001185011.2:c.*620G>C (NCAPH2) | NP_001171940.1:n.*620G>C | |
| NM_005138.3:c.417C>G (SCO2) MANE Select | NP_005129.2:p.Asp139Glu | |
| NM_001169109.2:c.417C>G (SCO2) | NP_001162580.1:p.Asp139Glu | |
| NM_001169111.2:c.417C>G (SCO2) | NP_001162582.1:p.Asp139Glu |