Linked Data
ClinVar Variation Id:
1442338
ClinVar RCV Id:
RCV001969837
dbSNP Id:
rs1173228514
gnomAD v2:
22-50962185-T-C
gnomAD v3:
22-50523756-T-C
gnomAD v4:
22-50523756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523756T>C , CM000684.2:g.50523756T>C | GRCh38 |
| NC_000022.10:g.50962185T>C , CM000684.1:g.50962185T>C | GRCh37 |
| NC_000022.9:g.49309051T>C | NCBI36 |
| NG_011860.1:g.11330A>G , LRG_727:g.11330A>G | |
| NG_016235.1:g.7684A>G | |
| NG_021419.1:g.20541T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.656A>G (SCO2) MANE Select | ENSP00000379046.4:p.Asp219Gly | |
| ENST00000420993.7:c.*381T>C (NCAPH2) MANE Select | ENSP00000410088.2:n.*381T>C | |
| ENST00000543927.6:c.656A>G (SCO2) | ENSP00000444433.1:p.Asp219Gly | |
| ENST00000252785.3:c.656A>G | ENSP00000252785.3:p.Asp219Gly | |
| ENST00000395693.7:c.656A>G | ENSP00000379046.3:p.Asp219Gly | |
| ENST00000535425.5:c.656A>G | ENSP00000444242.1:p.Asp219Gly | |
| ENST00000543927.5:c.656A>G | ENSP00000444433.1:p.Asp219Gly | |
| NM_001169109.1:c.656A>G (SCO2) | NP_001162580.1:p.Asp219Gly | |
| NM_001169110.1:c.656A>G (SCO2) | NP_001162581.1:p.Asp219Gly | |
| NM_001169111.1:c.656A>G (SCO2) | NP_001162582.1:p.Asp219Gly | |
| NM_001185011.1:c.*381T>C (NCAPH2) | NP_001171940.1:n.*381T>C | |
| NM_005138.2:c.656A>G (SCO2) | NP_005129.2:p.Asp219Gly | |
| NM_152299.3:c.*381T>C (NCAPH2) | NP_689512.2:n.*381T>C | |
| XR_001755232.1:n.2409T>C (NCAPH2) | ||
| NM_152299.4:c.*381T>C (NCAPH2) MANE Select | NP_689512.2:n.*381T>C | |
| NM_001185011.2:c.*381T>C (NCAPH2) | NP_001171940.1:n.*381T>C | |
| NM_005138.3:c.656A>G (SCO2) MANE Select | NP_005129.2:p.Asp219Gly | |
| NM_001169109.2:c.656A>G (SCO2) | NP_001162580.1:p.Asp219Gly | |
| NM_001169111.2:c.656A>G (SCO2) | NP_001162582.1:p.Asp219Gly |