Linked Data
ClinVar Variation Id:
1618993
ClinVar RCV Id:
RCV002086404
dbSNP Id:
rs146709827
ExAC:
19:10334601 T / C
gnomAD v2:
19-10334601-T-C
gnomAD v3:
19-10223925-T-C
gnomAD v4:
19-10223925-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10223925T>C , CM000681.2:g.10223925T>C | GRCh38 |
| NC_000019.9:g.10334601T>C , CM000681.1:g.10334601T>C | GRCh37 |
| NC_000019.8:g.10195601T>C | NCBI36 |
| NG_028016.3:g.12362A>G , LRG_362:g.12362A>G | |
| NG_046802.1:g.12883A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646641.1:c.981A>G (S1PR2) MANE Select | ENSP00000496438.1:p.Pro327= | |
| ENST00000588952.5:c.-401-5056A>G (DNMT1) | ENSP00000467050.1:n.-401-5056A>G | |
| ENST00000590320.2:c.981A>G (S1PR2) | ENSP00000466933.1:p.Pro327= | |
| ENST00000592342.5:c.-284+7279A>G (DNMT1) | ENSP00000465993.1:n.-284+7279A>G | |
| NM_004230.3:c.981A>G (S1PR2) | NP_004221.3:p.Pro327= | |
| XM_011528425.1:c.894+87A>G (S1PR2) | XP_011526727.1:n.894+87A>G | |
| NM_004230.4:c.981A>G (S1PR2) MANE Select | NP_004221.3:p.Pro327= |