Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223861C>G , CM000681.2:g.10223861C>G | GRCh38 |
| NC_000019.9:g.10334537C>G , CM000681.1:g.10334537C>G | GRCh37 |
| NC_000019.8:g.10195537C>G | NCBI36 |
| NG_028016.3:g.12426G>C , LRG_362:g.12426G>C | |
| NG_046802.1:g.12947G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.1045G>C (S1PR2) MANE Select | ENSP00000496438.1:p.Gly349Arg | |
| ENST00000588952.5:c.-401-4992G>C (DNMT1) | ENSP00000467050.1:n.-401-4992G>C | |
| ENST00000590320.2:c.1045G>C (S1PR2) | ENSP00000466933.1:p.Gly349Arg | |
| ENST00000592342.5:c.-284+7343G>C (DNMT1) | ENSP00000465993.1:n.-284+7343G>C | |
| NM_004230.3:c.1045G>C (S1PR2) | NP_004221.3:p.Gly349Arg | |
| XM_011528425.1:c.894+151G>C (S1PR2) | XP_011526727.1:n.894+151G>C | |
| NM_004230.4:c.1045G>C (S1PR2) MANE Select | NP_004221.3:p.Gly349Arg |