Linked Data
ClinVar Variation Id:
1879416
ClinVar RCV Id:
RCV002511915
dbSNP Id:
rs143246348
ExAC:
19:10334596 C / T
gnomAD v2:
19-10334596-C-T
gnomAD v3:
19-10223920-C-T
gnomAD v4:
19-10223920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223920C>T , CM000681.2:g.10223920C>T | GRCh38 |
| NC_000019.9:g.10334596C>T , CM000681.1:g.10334596C>T | GRCh37 |
| NC_000019.8:g.10195596C>T | NCBI36 |
| NG_028016.3:g.12367G>A , LRG_362:g.12367G>A | |
| NG_046802.1:g.12888G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.986G>A (S1PR2) MANE Select | ENSP00000496438.1:p.Arg329His | |
| ENST00000588952.5:c.-401-5051G>A (DNMT1) | ENSP00000467050.1:n.-401-5051G>A | |
| ENST00000590320.2:c.986G>A (S1PR2) | ENSP00000466933.1:p.Arg329His | |
| ENST00000592342.5:c.-284+7284G>A (DNMT1) | ENSP00000465993.1:n.-284+7284G>A | |
| NM_004230.3:c.986G>A (S1PR2) | NP_004221.3:p.Arg329His | |
| XM_011528425.1:c.894+92G>A (S1PR2) | XP_011526727.1:n.894+92G>A | |
| NM_004230.4:c.986G>A (S1PR2) MANE Select | NP_004221.3:p.Arg329His |