Linked Data
dbSNP Id:
rs1243603350
gnomAD v2:
19-10334564-T-C
gnomAD v3:
19-10223888-T-C
gnomAD v4:
19-10223888-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223888T>C , CM000681.2:g.10223888T>C | GRCh38 |
| NC_000019.9:g.10334564T>C , CM000681.1:g.10334564T>C | GRCh37 |
| NC_000019.8:g.10195564T>C | NCBI36 |
| NG_028016.3:g.12399A>G , LRG_362:g.12399A>G | |
| NG_046802.1:g.12920A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.1018A>G (S1PR2) MANE Select | ENSP00000496438.1:p.Met340Val | |
| ENST00000588952.5:c.-401-5019A>G (DNMT1) | ENSP00000467050.1:n.-401-5019A>G | |
| ENST00000590320.2:c.1018A>G (S1PR2) | ENSP00000466933.1:p.Met340Val | |
| ENST00000592342.5:c.-284+7316A>G (DNMT1) | ENSP00000465993.1:n.-284+7316A>G | |
| NM_004230.3:c.1018A>G (S1PR2) | NP_004221.3:p.Met340Val | |
| XM_011528425.1:c.894+124A>G (S1PR2) | XP_011526727.1:n.894+124A>G | |
| NM_004230.4:c.1018A>G (S1PR2) MANE Select | NP_004221.3:p.Met340Val |