Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10224426C>T , CM000681.2:g.10224426C>T | GRCh38 |
| NC_000019.9:g.10335102C>T , CM000681.1:g.10335102C>T | GRCh37 |
| NC_000019.8:g.10196102C>T | NCBI36 |
| NG_028016.3:g.11861G>A , LRG_362:g.11861G>A | |
| NG_046802.1:g.12382G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004230.4:c.480G>A (S1PR2) MANE Select | NP_004221.3:p.Leu160= |
| ENST00000646641.1:c.480G>A (S1PR2) MANE Select | ENSP00000496438.1:p.Leu160= |
| NM_004230.3:c.480G>A (S1PR2) | NP_004221.3:p.Leu160= |
| ENST00000588952.5:c.-401-5557G>A (DNMT1) | ENSP00000467050.1:n.-401-5557G>A |
| ENST00000590320.2:c.480G>A (S1PR2) | ENSP00000466933.1:p.Leu160= |
| ENST00000592342.5:c.-284+6778G>A (DNMT1) | ENSP00000465993.1:n.-284+6778G>A |
| XM_011528425.1:c.480G>A (S1PR2) | XP_011526727.1:p.Leu160= |