Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223904C>T , CM000681.2:g.10223904C>T | GRCh38 |
| NC_000019.9:g.10334580C>T , CM000681.1:g.10334580C>T | GRCh37 |
| NC_000019.8:g.10195580C>T | NCBI36 |
| NG_028016.3:g.12383G>A , LRG_362:g.12383G>A | |
| NG_046802.1:g.12904G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.1002G>A (S1PR2) MANE Select | ENSP00000496438.1:p.Leu334= | |
| ENST00000588952.5:c.-401-5035G>A (DNMT1) | ENSP00000467050.1:n.-401-5035G>A | |
| ENST00000590320.2:c.1002G>A (S1PR2) | ENSP00000466933.1:p.Leu334= | |
| ENST00000592342.5:c.-284+7300G>A (DNMT1) | ENSP00000465993.1:n.-284+7300G>A | |
| NM_004230.3:c.1002G>A (S1PR2) | NP_004221.3:p.Leu334= | |
| XM_011528425.1:c.894+108G>A (S1PR2) | XP_011526727.1:n.894+108G>A | |
| NM_004230.4:c.1002G>A (S1PR2) MANE Select | NP_004221.3:p.Leu334= |