Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546203del , CM000680.2:g.31546203del | GRCh38 |
| NC_000018.9:g.29126166del , CM000680.1:g.29126166del | GRCh37 |
| NC_000018.8:g.27380164del | NCBI36 |
| NG_007072.3:g.52962del , LRG_397:g.52962del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.2817del (DSG2) MANE Select | NP_001934.2:p.Tyr940MetfsTer12 |
| ENST00000261590.13:c.2817del (DSG2) MANE Select | ENSP00000261590.8:p.Tyr940MetfsTer12 |
| NM_001943.3:c.2817del , LRG_397t1:c.2817del (DSG2) | NP_001934.2:p.Tyr940MetfsTer12 |
| NM_001943.4:c.2817del (DSG2) | NP_001934.2:p.Tyr940MetfsTer12 |
| NR_045216.1:n.1346-296del (DSG2-AS1) | |
| ENST00000261590.12:c.2817del (DSG2) | ENSP00000261590.8:p.Tyr940MetfsTer12 |
| XM_024451095.1:c.2283del (DSG2) | XP_024306863.1:p.Tyr762MetfsTer12 |