Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546300T>C , CM000680.2:g.31546300T>C | GRCh38 |
| NC_000018.9:g.29126263T>C , CM000680.1:g.29126263T>C | GRCh37 |
| NC_000018.8:g.27380261T>C | NCBI36 |
| NG_007072.3:g.53059T>C , LRG_397:g.53059T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.2914T>C (DSG2) MANE Select | NP_001934.2:p.Ser972Pro |
| ENST00000261590.13:c.2914T>C (DSG2) MANE Select | ENSP00000261590.8:p.Ser972Pro |
| NM_001943.3:c.2914T>C , LRG_397t1:c.2914T>C (DSG2) | NP_001934.2:p.Ser972Pro |
| NM_001943.4:c.2914T>C (DSG2) | NP_001934.2:p.Ser972Pro |
| NR_045216.1:n.1346-394A>G (DSG2-AS1) | |
| ENST00000261590.12:c.2914T>C (DSG2) | ENSP00000261590.8:p.Ser972Pro |
| XM_024451095.1:c.2380T>C (DSG2) | XP_024306863.1:p.Ser794Pro |