Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223855T>G , CM000681.2:g.10223855T>G | GRCh38 |
| NC_000019.9:g.10334531T>G , CM000681.1:g.10334531T>G | GRCh37 |
| NC_000019.8:g.10195531T>G | NCBI36 |
| NG_028016.3:g.12432A>C , LRG_362:g.12432A>C | |
| NG_046802.1:g.12953A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.1051A>C (S1PR2) MANE Select | ENSP00000496438.1:p.Thr351Pro | |
| ENST00000588952.5:c.-401-4986A>C (DNMT1) | ENSP00000467050.1:n.-401-4986A>C | |
| ENST00000590320.2:c.1051A>C (S1PR2) | ENSP00000466933.1:p.Thr351Pro | |
| ENST00000592342.5:c.-284+7349A>C (DNMT1) | ENSP00000465993.1:n.-284+7349A>C | |
| NM_004230.3:c.1051A>C (S1PR2) | NP_004221.3:p.Thr351Pro | |
| XM_011528425.1:c.894+157A>C (S1PR2) | XP_011526727.1:n.894+157A>C | |
| NM_004230.4:c.1051A>C (S1PR2) MANE Select | NP_004221.3:p.Thr351Pro |