Revel Score:
ENST00000261590 (MANE Select)
0.106
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542725C>A , CM000680.2:g.31542725C>A | GRCh38 |
| NC_000018.9:g.29122688C>A , CM000680.1:g.29122688C>A | GRCh37 |
| NC_000018.8:g.27376686C>A | NCBI36 |
| NG_007072.3:g.49484C>A , LRG_397:g.49484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2207C>A (DSG2) MANE Select | ENSP00000261590.8:p.Thr736Lys | |
| ENST00000261590.12:c.2207C>A (DSG2) | ENSP00000261590.8:p.Thr736Lys | |
| NM_001943.3:c.2207C>A , LRG_397t1:c.2207C>A (DSG2) | NP_001934.2:p.Thr736Lys | |
| NR_045216.1:n.1810+377G>T (DSG2-AS1) | ||
| NM_001943.4:c.2207C>A (DSG2) | NP_001934.2:p.Thr736Lys | |
| XM_024451095.1:c.1673C>A (DSG2) | XP_024306863.1:p.Thr558Lys | |
| NM_001943.5:c.2207C>A (DSG2) MANE Select | NP_001934.2:p.Thr736Lys |