Linked Data
dbSNP Id:
rs772657245
ExAC:
18:29126011 T / G
gnomAD v2:
18-29126011-T-G
gnomAD v4:
18-31546048-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546048T>G , CM000680.2:g.31546048T>G | GRCh38 |
| NC_000018.9:g.29126011T>G , CM000680.1:g.29126011T>G | GRCh37 |
| NC_000018.8:g.27380009T>G | NCBI36 |
| NG_007072.3:g.52807T>G , LRG_397:g.52807T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2662T>G (DSG2) MANE Select | ENSP00000261590.8:p.Phe888Val | |
| ENST00000261590.12:c.2662T>G (DSG2) | ENSP00000261590.8:p.Phe888Val | |
| NM_001943.3:c.2662T>G , LRG_397t1:c.2662T>G (DSG2) | NP_001934.2:p.Phe888Val | |
| NR_045216.1:n.1346-142A>C (DSG2-AS1) | ||
| NM_001943.4:c.2662T>G (DSG2) | NP_001934.2:p.Phe888Val | |
| XM_024451095.1:c.2128T>G (DSG2) | XP_024306863.1:p.Phe710Val | |
| NM_001943.5:c.2662T>G (DSG2) MANE Select | NP_001934.2:p.Phe888Val |