Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546426G>A , CM000680.2:g.31546426G>A | GRCh38 |
| NC_000018.9:g.29126389G>A , CM000680.1:g.29126389G>A | GRCh37 |
| NC_000018.8:g.27380387G>A | NCBI36 |
| NG_007072.3:g.53185G>A , LRG_397:g.53185G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.3040G>A (DSG2) MANE Select | NP_001934.2:p.Val1014Ile |
| ENST00000261590.13:c.3040G>A (DSG2) MANE Select | ENSP00000261590.8:p.Val1014Ile |
| NM_001943.3:c.3040G>A , LRG_397t1:c.3040G>A (DSG2) | NP_001934.2:p.Val1014Ile |
| NM_001943.4:c.3040G>A (DSG2) | NP_001934.2:p.Val1014Ile |
| NR_045216.1:n.1346-520C>T (DSG2-AS1) | |
| ENST00000261590.12:c.3040G>A (DSG2) | ENSP00000261590.8:p.Val1014Ile |
| XM_024451095.1:c.2506G>A (DSG2) | XP_024306863.1:p.Val836Ile |