Linked Data
ClinVar Variation Id:
5684
ClinVar RCV Id:
RCV000006038
dbSNP Id:
rs28937868
gnomAD v4:
22-50524014-C-T
PubMed:
PMID:14994243
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50524014C>T , CM000684.2:g.50524014C>T | GRCh38 |
| NC_000022.10:g.50962443C>T , CM000684.1:g.50962443C>T | GRCh37 |
| NC_000022.9:g.49309309C>T | NCBI36 |
| NG_011860.1:g.11072G>A , LRG_727:g.11072G>A | |
| NG_016235.1:g.7426G>A | |
| NG_021419.1:g.20799C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395693.8:c.398G>A (SCO2) MANE Select | ENSP00000379046.4:p.Cys133Tyr | |
| ENST00000420993.7:c.*639C>T (NCAPH2) MANE Select | ENSP00000410088.2:n.*639C>T | |
| ENST00000543927.6:c.398G>A (SCO2) | ENSP00000444433.1:p.Cys133Tyr | |
| ENST00000638598.2:c.398G>A (SCO2) | ENSP00000491753.2:p.Cys133Tyr | |
| ENST00000252785.3:c.398G>A | ENSP00000252785.3:p.Cys133Tyr | |
| ENST00000395693.7:c.398G>A | ENSP00000379046.3:p.Cys133Tyr | |
| ENST00000423348.1:c.398G>A | ENSP00000403570.1:p.Cys133Tyr | |
| ENST00000439934.5:c.398G>A | ENSP00000415642.1:p.Cys133Tyr | |
| ENST00000535425.5:c.398G>A | ENSP00000444242.1:p.Cys133Tyr | |
| ENST00000543927.5:c.398G>A | ENSP00000444433.1:p.Cys133Tyr | |
| NM_001169109.1:c.398G>A (SCO2) | NP_001162580.1:p.Cys133Tyr | |
| NM_001169110.1:c.398G>A (SCO2) | NP_001162581.1:p.Cys133Tyr | |
| NM_001169111.1:c.398G>A (SCO2) | NP_001162582.1:p.Cys133Tyr | |
| NM_001185011.1:c.*639C>T (NCAPH2) | NP_001171940.1:n.*639C>T | |
| NM_005138.2:c.398G>A (SCO2) | NP_005129.2:p.Cys133Tyr | |
| NM_152299.3:c.*639C>T (NCAPH2) | NP_689512.2:n.*639C>T | |
| XR_001755232.1:n.2667C>T (NCAPH2) | ||
| NM_152299.4:c.*639C>T (NCAPH2) MANE Select | NP_689512.2:n.*639C>T | |
| NM_001185011.2:c.*639C>T (NCAPH2) | NP_001171940.1:n.*639C>T | |
| NM_005138.3:c.398G>A (SCO2) MANE Select | NP_005129.2:p.Cys133Tyr | |
| NM_001169109.2:c.398G>A (SCO2) | NP_001162580.1:p.Cys133Tyr | |
| NM_001169111.2:c.398G>A (SCO2) | NP_001162582.1:p.Cys133Tyr |