Linked Data
ClinVar Variation Id:
3157417
ClinVar RCV Id:
RCV004447260
dbSNP Id:
rs540296894
ExAC:
19:10334548 G / T
gnomAD v2:
19-10334548-G-T
gnomAD v3:
19-10223872-G-T
gnomAD v4:
19-10223872-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223872G>T , CM000681.2:g.10223872G>T | GRCh38 |
| NC_000019.9:g.10334548G>T , CM000681.1:g.10334548G>T | GRCh37 |
| NC_000019.8:g.10195548G>T | NCBI36 |
| NG_028016.3:g.12415C>A , LRG_362:g.12415C>A | |
| NG_046802.1:g.12936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.1034C>A (S1PR2) MANE Select | ENSP00000496438.1:p.Thr345Lys | |
| ENST00000588952.5:c.-401-5003C>A (DNMT1) | ENSP00000467050.1:n.-401-5003C>A | |
| ENST00000590320.2:c.1034C>A (S1PR2) | ENSP00000466933.1:p.Thr345Lys | |
| ENST00000592342.5:c.-284+7332C>A (DNMT1) | ENSP00000465993.1:n.-284+7332C>A | |
| NM_004230.3:c.1034C>A (S1PR2) | NP_004221.3:p.Thr345Lys | |
| XM_011528425.1:c.894+140C>A (S1PR2) | XP_011526727.1:n.894+140C>A | |
| NM_004230.4:c.1034C>A (S1PR2) MANE Select | NP_004221.3:p.Thr345Lys |