Linked Data
dbSNP Id:
rs779925683
ExAC:
19:10334542 A / G
gnomAD v2:
19-10334542-A-G
gnomAD v4:
19-10223866-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223866A>G , CM000681.2:g.10223866A>G | GRCh38 |
| NC_000019.9:g.10334542A>G , CM000681.1:g.10334542A>G | GRCh37 |
| NC_000019.8:g.10195542A>G | NCBI36 |
| NG_028016.3:g.12421T>C , LRG_362:g.12421T>C | |
| NG_046802.1:g.12942T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.1040T>C (S1PR2) MANE Select | ENSP00000496438.1:p.Leu347Pro | |
| ENST00000588952.5:c.-401-4997T>C (DNMT1) | ENSP00000467050.1:n.-401-4997T>C | |
| ENST00000590320.2:c.1040T>C (S1PR2) | ENSP00000466933.1:p.Leu347Pro | |
| ENST00000592342.5:c.-284+7338T>C (DNMT1) | ENSP00000465993.1:n.-284+7338T>C | |
| NM_004230.3:c.1040T>C (S1PR2) | NP_004221.3:p.Leu347Pro | |
| XM_011528425.1:c.894+146T>C (S1PR2) | XP_011526727.1:n.894+146T>C | |
| NM_004230.4:c.1040T>C (S1PR2) MANE Select | NP_004221.3:p.Leu347Pro |