Linked Data
ClinVar Variation Id:
448173
ClinVar RCV Id:
RCV000517182
dbSNP Id:
rs533022763
ExAC:
19:45992120 C / T
gnomAD v2:
19-45992120-C-T
gnomAD v3:
19-45488862-C-T
gnomAD v4:
19-45488862-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45488862C>T , CM000681.2:g.45488862C>T | GRCh38 |
| NC_000019.9:g.45992120C>T , CM000681.1:g.45992120C>T | GRCh37 |
| NC_000019.8:g.50683960C>T | NCBI36 |
| NG_032157.1:g.13192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245923.9:c.1366G>A (RTN2) MANE Select | ENSP00000245923.3:p.Val456Met | |
| ENST00000245923.8:c.1366G>A (RTN2) | ENSP00000245923.3:p.Val456Met | |
| ENST00000344680.8:c.1147G>A (RTN2) | ENSP00000345127.3:p.Val383Met | |
| ENST00000401705.5:c.-133C>T (PPM1N) | ENSP00000384318.1:n.-133C>T | |
| ENST00000430715.6:c.346G>A (RTN2) | ENSP00000398178.1:p.Val116Met | |
| ENST00000587597.5:c.1366G>A (RTN2) | ENSP00000468144.1:p.Val456Met | |
| ENST00000588036.5:n.204G>A (RTN2) | ||
| ENST00000589628.1:n.333G>A (RTN2) | ||
| ENST00000590526.5:c.544G>A (RTN2) | ENSP00000466619.1:p.Val182Met | |
| ENST00000590746.5:n.62-2749G>A (RTN2) | ||
| ENST00000591286.5:c.*364G>A (RTN2) | ENSP00000467863.1:n.*364G>A | |
| ENST00000591789.1:n.112G>A (RTN2) | ||
| ENST00000593129.1:n.242G>A (RTN2) | ||
| NM_005619.4:c.1366G>A (RTN2) | NP_005610.1:p.Val456Met | |
| NM_206900.2:c.1147G>A (RTN2) | NP_996783.1:p.Val383Met | |
| NM_206901.2:c.346G>A (RTN2) | NP_996784.1:p.Val116Met | |
| NM_005619.5:c.1366G>A (RTN2) MANE Select | NP_005610.1:p.Val456Met | |
| NM_206900.3:c.1147G>A (RTN2) | NP_996783.1:p.Val383Met | |
| NM_206901.3:c.346G>A (RTN2) | NP_996784.1:p.Val116Met |