Revel Score:
ENST00000261590 (MANE Select)
0.820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546433T>A , CM000680.2:g.31546433T>A | GRCh38 |
| NC_000018.9:g.29126396T>A , CM000680.1:g.29126396T>A | GRCh37 |
| NC_000018.8:g.27380394T>A | NCBI36 |
| NG_007072.3:g.53192T>A , LRG_397:g.53192T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3047T>A (DSG2) MANE Select | ENSP00000261590.8:p.Val1016Glu | |
| ENST00000261590.12:c.3047T>A (DSG2) | ENSP00000261590.8:p.Val1016Glu | |
| NM_001943.3:c.3047T>A , LRG_397t1:c.3047T>A (DSG2) | NP_001934.2:p.Val1016Glu | |
| NR_045216.1:n.1346-527A>T (DSG2-AS1) | ||
| NM_001943.4:c.3047T>A (DSG2) | NP_001934.2:p.Val1016Glu | |
| XM_024451095.1:c.2513T>A (DSG2) | XP_024306863.1:p.Val838Glu | |
| NM_001943.5:c.3047T>A (DSG2) MANE Select | NP_001934.2:p.Val1016Glu |