Linked Data
ClinVar Variation Id:
2779728
ClinVar RCV Id:
RCV003665298
dbSNP Id:
rs2069206788
gnomAD v3:
22-50523966-C-CG
gnomAD v4:
22-50523966-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523967dup , CM000684.2:g.50523967dup | GRCh38 |
| NC_000022.10:g.50962396dup , CM000684.1:g.50962396dup | GRCh37 |
| NC_000022.9:g.49309262dup | NCBI36 |
| NG_011860.1:g.11119dup , LRG_727:g.11119dup | |
| NG_016235.1:g.7473dup | |
| NG_021419.1:g.20752dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.445dup (SCO2) MANE Select | ENSP00000379046.4:p.Arg149ProfsTer27 | |
| ENST00000420993.7:c.*592dup (NCAPH2) MANE Select | ENSP00000410088.2:n.*592dup | |
| ENST00000543927.6:c.445dup (SCO2) | ENSP00000444433.1:p.Arg149ProfsTer27 | |
| ENST00000638598.2:c.445dup (SCO2) | ENSP00000491753.2:p.Arg149ProfsTer? | |
| ENST00000252785.3:c.445dup | ENSP00000252785.3:p.Arg149ProfsTer27 | |
| ENST00000395693.7:c.445dup | ENSP00000379046.3:p.Arg149ProfsTer27 | |
| ENST00000535425.5:c.445dup | ENSP00000444242.1:p.Arg149ProfsTer27 | |
| ENST00000543927.5:c.445dup | ENSP00000444433.1:p.Arg149ProfsTer27 | |
| NM_001169109.1:c.445dup (SCO2) | NP_001162580.1:p.Arg149ProfsTer27 | |
| NM_001169110.1:c.445dup (SCO2) | NP_001162581.1:p.Arg149ProfsTer27 | |
| NM_001169111.1:c.445dup (SCO2) | NP_001162582.1:p.Arg149ProfsTer27 | |
| NM_001185011.1:c.*592dup (NCAPH2) | NP_001171940.1:n.*592dup | |
| NM_005138.2:c.445dup (SCO2) | NP_005129.2:p.Arg149ProfsTer27 | |
| NM_152299.3:c.*592dup (NCAPH2) | NP_689512.2:n.*592dup | |
| XR_001755232.1:n.2620dup (NCAPH2) | ||
| NM_152299.4:c.*592dup (NCAPH2) MANE Select | NP_689512.2:n.*592dup | |
| NM_001185011.2:c.*592dup (NCAPH2) | NP_001171940.1:n.*592dup | |
| NM_005138.3:c.445dup (SCO2) MANE Select | NP_005129.2:p.Arg149ProfsTer27 | |
| NM_001169109.2:c.445dup (SCO2) | NP_001162580.1:p.Arg149ProfsTer27 | |
| NM_001169111.2:c.445dup (SCO2) | NP_001162582.1:p.Arg149ProfsTer27 |