This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
dbSNP:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546636C>A , CM000680.2:g.31546636C>A | GRCh38 |
| NC_000018.9:g.29126599C>A , CM000680.1:g.29126599C>A | GRCh37 |
| NC_000018.8:g.27380597C>A | NCBI36 |
| NG_007072.3:g.53395C>A , LRG_397:g.53395C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3250C>A (DSG2) MANE Select | ENSP00000261590.8:p.Pro1084Thr | |
| ENST00000261590.12:c.3250C>A (DSG2) | ENSP00000261590.8:p.Pro1084Thr | |
| NM_001943.3:c.3250C>A , LRG_397t1:c.3250C>A (DSG2) | NP_001934.2:p.Pro1084Thr | |
| NR_045216.1:n.1346-730G>T (DSG2-AS1) | ||
| NM_001943.4:c.3250C>A (DSG2) | NP_001934.2:p.Pro1084Thr | |
| XM_024451095.1:c.2716C>A (DSG2) | XP_024306863.1:p.Pro906Thr | |
| NM_001943.5:c.3250C>A (DSG2) MANE Select | NP_001934.2:p.Pro1084Thr |