Linked Data
dbSNP Id:
rs1448600347
gnomAD v2:
19-10334600-G-A
gnomAD v3:
19-10223924-G-A
gnomAD v4:
19-10223924-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223924G>A , CM000681.2:g.10223924G>A | GRCh38 |
| NC_000019.9:g.10334600G>A , CM000681.1:g.10334600G>A | GRCh37 |
| NC_000019.8:g.10195600G>A | NCBI36 |
| NG_028016.3:g.12363C>T , LRG_362:g.12363C>T | |
| NG_046802.1:g.12884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.982C>T (S1PR2) MANE Select | ENSP00000496438.1:p.Leu328Phe | |
| ENST00000588952.5:c.-401-5055C>T (DNMT1) | ENSP00000467050.1:n.-401-5055C>T | |
| ENST00000590320.2:c.982C>T (S1PR2) | ENSP00000466933.1:p.Leu328Phe | |
| ENST00000592342.5:c.-284+7280C>T (DNMT1) | ENSP00000465993.1:n.-284+7280C>T | |
| NM_004230.3:c.982C>T (S1PR2) | NP_004221.3:p.Leu328Phe | |
| XM_011528425.1:c.894+88C>T (S1PR2) | XP_011526727.1:n.894+88C>T | |
| NM_004230.4:c.982C>T (S1PR2) MANE Select | NP_004221.3:p.Leu328Phe |