Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546512G>A , CM000680.2:g.31546512G>A | GRCh38 |
| NC_000018.9:g.29126475G>A , CM000680.1:g.29126475G>A | GRCh37 |
| NC_000018.8:g.27380473G>A | NCBI36 |
| NG_007072.3:g.53271G>A , LRG_397:g.53271G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.3126G>A (DSG2) MANE Select | ENSP00000261590.8:p.Gln1042= | |
| ENST00000261590.12:c.3126G>A (DSG2) | ENSP00000261590.8:p.Gln1042= | |
| NM_001943.3:c.3126G>A , LRG_397t1:c.3126G>A (DSG2) | NP_001934.2:p.Gln1042= | |
| NR_045216.1:n.1346-606C>T (DSG2-AS1) | ||
| NM_001943.4:c.3126G>A (DSG2) | NP_001934.2:p.Gln1042= | |
| XM_024451095.1:c.2592G>A (DSG2) | XP_024306863.1:p.Gln864= | |
| NM_001943.5:c.3126G>A (DSG2) MANE Select | NP_001934.2:p.Gln1042= |