Linked Data
ClinVar Variation Id:
521969
ClinVar RCV Id:
RCV000622941
dbSNP Id:
rs758826475
ExAC:
19:10335106 G / A
gnomAD v2:
19-10335106-G-A
gnomAD v3:
19-10224430-G-A
gnomAD v4:
19-10224430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10224430G>A , CM000681.2:g.10224430G>A | GRCh38 |
| NC_000019.9:g.10335106G>A , CM000681.1:g.10335106G>A | GRCh37 |
| NC_000019.8:g.10196106G>A | NCBI36 |
| NG_028016.3:g.11857C>T , LRG_362:g.11857C>T | |
| NG_046802.1:g.12378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.476C>T (S1PR2) MANE Select | ENSP00000496438.1:p.Ser159Leu | |
| ENST00000588952.5:c.-401-5561C>T (DNMT1) | ENSP00000467050.1:n.-401-5561C>T | |
| ENST00000590320.2:c.476C>T (S1PR2) | ENSP00000466933.1:p.Ser159Leu | |
| ENST00000592342.5:c.-284+6774C>T (DNMT1) | ENSP00000465993.1:n.-284+6774C>T | |
| NM_004230.3:c.476C>T (S1PR2) | NP_004221.3:p.Ser159Leu | |
| XM_011528425.1:c.476C>T (S1PR2) | XP_011526727.1:p.Ser159Leu | |
| NM_004230.4:c.476C>T (S1PR2) MANE Select | NP_004221.3:p.Ser159Leu |