Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.117241726G>A , CM000672.2:g.117241726G>A | GRCh38 |
| NC_000010.10:g.119001237G>A , CM000672.1:g.119001237G>A | GRCh37 |
| NC_000010.9:g.118991227G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003054.6:c.33G>A (SLC18A2) MANE Select | NP_003045.2:p.Trp11Ter |
| ENST00000644641.2:c.33G>A (SLC18A2) MANE Select | ENSP00000496339.1:p.Trp11Ter |
| NM_003054.4:c.33G>A (SLC18A2) | NP_003045.2:p.Trp11Ter |
| NM_003054.5:c.33G>A (SLC18A2) | NP_003045.2:p.Trp11Ter |
| ENST00000298472.9:c.33G>A (SLC18A2) | ENSP00000298472.5:p.Trp11Ter |
| ENST00000497497.1:n.176G>A (SLC18A2) | |
| XR_946342.1:n.879+159C>T (SLC18A2-AS1) | |
| XR_946342.2:n.882+159C>T (SLC18A2-AS1) |