Linked Data
dbSNP Id:
rs368947605
ExAC:
15:45554286 T / C
gnomAD v2:
15-45554286-T-C
gnomAD v3:
15-45262088-T-C
gnomAD v4:
15-45262088-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45262088T>C , CM000677.2:g.45262088T>C | GRCh38 |
| NC_000015.9:g.45554286T>C , CM000677.1:g.45554286T>C | GRCh37 |
| NC_000015.8:g.43341578T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347644.8:c.244T>C (SLC28A2) MANE Select | ENSP00000315006.4:p.Leu82= | |
| ENST00000347644.7:c.244T>C (SLC28A2) | ENSP00000315006.4:p.Leu82= | |
| ENST00000560438.5:c.208T>C (SLC28A2) | ENSP00000454074.1:p.Leu70= | |
| NM_004212.3:c.244T>C (SLC28A2) | NP_004203.2:p.Leu82= | |
| NR_120335.1:n.27-6090A>G (SLC28A2-AS1) | ||
| XM_011522198.1:c.244T>C (SLC28A2) | XP_011520500.1:p.Leu82= | |
| XM_011522199.1:c.244T>C (SLC28A2) | XP_011520501.1:p.Leu82= | |
| XM_011522200.1:c.244T>C (SLC28A2) | XP_011520502.1:p.Leu82= | |
| XM_011522201.1:c.244T>C (SLC28A2) | XP_011520503.1:p.Leu82= | |
| XM_011522198.2:c.244T>C (SLC28A2) | XP_011520500.1:p.Leu82= | |
| XM_011522200.2:c.244T>C (SLC28A2) | XP_011520502.1:p.Leu82= | |
| XM_011522201.2:c.244T>C (SLC28A2) | XP_011520503.1:p.Leu82= | |
| NM_004212.4:c.244T>C (SLC28A2) MANE Select | NP_004203.2:p.Leu82= |