Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546425C>A , CM000680.2:g.31546425C>A | GRCh38 |
| NC_000018.9:g.29126388C>A , CM000680.1:g.29126388C>A | GRCh37 |
| NC_000018.8:g.27380386C>A | NCBI36 |
| NG_007072.3:g.53184C>A , LRG_397:g.53184C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.3039C>A (DSG2) MANE Select | NP_001934.2:p.Tyr1013Ter |
| ENST00000261590.13:c.3039C>A (DSG2) MANE Select | ENSP00000261590.8:p.Tyr1013Ter |
| NM_001943.3:c.3039C>A , LRG_397t1:c.3039C>A (DSG2) | NP_001934.2:p.Tyr1013Ter |
| NM_001943.4:c.3039C>A (DSG2) | NP_001934.2:p.Tyr1013Ter |
| NR_045216.1:n.1346-519G>T (DSG2-AS1) | |
| ENST00000261590.12:c.3039C>A (DSG2) | ENSP00000261590.8:p.Tyr1013Ter |
| XM_024451095.1:c.2505C>A (DSG2) | XP_024306863.1:p.Tyr835Ter |