Linked Data
ClinVar Variation Id:
1642324
ClinVar RCV Id:
RCV002153505
dbSNP Id:
rs1163589876
gnomAD v2:
22-50962046-C-T
gnomAD v3:
22-50523617-C-T
gnomAD v4:
22-50523617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523617C>T , CM000684.2:g.50523617C>T | GRCh38 |
| NC_000022.10:g.50962046C>T , CM000684.1:g.50962046C>T | GRCh37 |
| NC_000022.9:g.49308912C>T | NCBI36 |
| NG_016235.1:g.7823G>A | |
| NG_021419.1:g.20402C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395693.8:c.795G>A (SCO2) MANE Select | ENSP00000379046.4:p.Leu265= | |
| ENST00000420993.7:c.*242C>T (NCAPH2) MANE Select | ENSP00000410088.2:n.*242C>T | |
| ENST00000543927.6:c.795G>A (SCO2) | ENSP00000444433.1:p.Leu265= | |
| ENST00000252785.3:c.795G>A | ENSP00000252785.3:p.Leu265= | |
| ENST00000395693.7:c.795G>A | ENSP00000379046.3:p.Leu265= | |
| ENST00000535425.5:c.795G>A | ENSP00000444242.1:p.Leu265= | |
| ENST00000543927.5:c.795G>A | ENSP00000444433.1:p.Leu265= | |
| NM_001169109.1:c.795G>A (SCO2) | NP_001162580.1:p.Leu265= | |
| NM_001169110.1:c.795G>A (SCO2) | NP_001162581.1:p.Leu265= | |
| NM_001169111.1:c.795G>A (SCO2) | NP_001162582.1:p.Leu265= | |
| NM_001185011.1:c.*242C>T (NCAPH2) | NP_001171940.1:n.*242C>T | |
| NM_005138.2:c.795G>A (SCO2) | NP_005129.2:p.Leu265= | |
| NM_152299.3:c.*242C>T (NCAPH2) | NP_689512.2:n.*242C>T | |
| XR_001755232.1:n.2270C>T (NCAPH2) | ||
| NM_152299.4:c.*242C>T (NCAPH2) MANE Select | NP_689512.2:n.*242C>T | |
| NM_001185011.2:c.*242C>T (NCAPH2) | NP_001171940.1:n.*242C>T | |
| NM_005138.3:c.795G>A (SCO2) MANE Select | NP_005129.2:p.Leu265= | |
| NM_001169109.2:c.795G>A (SCO2) | NP_001162580.1:p.Leu265= | |
| NM_001169111.2:c.795G>A (SCO2) | NP_001162582.1:p.Leu265= |