Linked Data
ClinVar Variation Id:
1345540
ClinVar RCV Id:
RCV002037370
dbSNP Id:
rs748093648
ExAC:
22:50962551 G / A
gnomAD v2:
22-50962551-G-A
gnomAD v3:
22-50524122-G-A
gnomAD v4:
22-50524122-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50524122G>A , CM000684.2:g.50524122G>A | GRCh38 |
| NC_000022.10:g.50962551G>A , CM000684.1:g.50962551G>A | GRCh37 |
| NC_000022.9:g.49309417G>A | NCBI36 |
| NG_011860.1:g.10964C>T , LRG_727:g.10964C>T | |
| NG_016235.1:g.7318C>T | |
| NG_021419.1:g.20907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.290C>T (SCO2) MANE Select | ENSP00000379046.4:p.Ala97Val | |
| ENST00000420993.7:c.*747G>A (NCAPH2) MANE Select | ENSP00000410088.2:n.*747G>A | |
| ENST00000543927.6:c.290C>T (SCO2) | ENSP00000444433.1:p.Ala97Val | |
| ENST00000638598.2:c.290C>T (SCO2) | ENSP00000491753.2:p.Ala97Val | |
| ENST00000252785.3:c.290C>T | ENSP00000252785.3:p.Ala97Val | |
| ENST00000395693.7:c.290C>T | ENSP00000379046.3:p.Ala97Val | |
| ENST00000423348.1:c.290C>T | ENSP00000403570.1:p.Ala97Val | |
| ENST00000439934.5:c.290C>T | ENSP00000415642.1:p.Ala97Val | |
| ENST00000535425.5:c.290C>T | ENSP00000444242.1:p.Ala97Val | |
| ENST00000543927.5:c.290C>T | ENSP00000444433.1:p.Ala97Val | |
| NM_001169109.1:c.290C>T (SCO2) | NP_001162580.1:p.Ala97Val | |
| NM_001169110.1:c.290C>T (SCO2) | NP_001162581.1:p.Ala97Val | |
| NM_001169111.1:c.290C>T (SCO2) | NP_001162582.1:p.Ala97Val | |
| NM_001185011.1:c.*747G>A (NCAPH2) | NP_001171940.1:n.*747G>A | |
| NM_005138.2:c.290C>T (SCO2) | NP_005129.2:p.Ala97Val | |
| NM_152299.3:c.*747G>A (NCAPH2) | NP_689512.2:n.*747G>A | |
| XR_001755232.1:n.2775G>A (NCAPH2) | ||
| NM_152299.4:c.*747G>A (NCAPH2) MANE Select | NP_689512.2:n.*747G>A | |
| NM_001185011.2:c.*747G>A (NCAPH2) | NP_001171940.1:n.*747G>A | |
| NM_005138.3:c.290C>T (SCO2) MANE Select | NP_005129.2:p.Ala97Val | |
| NM_001169109.2:c.290C>T (SCO2) | NP_001162580.1:p.Ala97Val | |
| NM_001169111.2:c.290C>T (SCO2) | NP_001162582.1:p.Ala97Val |