ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546637C>T , CM000680.2:g.31546637C>T | GRCh38 |
| NC_000018.9:g.29126600C>T , CM000680.1:g.29126600C>T | GRCh37 |
| NC_000018.8:g.27380598C>T | NCBI36 |
| NG_007072.3:g.53396C>T , LRG_397:g.53396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3251C>T (DSG2) MANE Select | ENSP00000261590.8:p.Pro1084Leu | |
| ENST00000261590.12:c.3251C>T (DSG2) | ENSP00000261590.8:p.Pro1084Leu | |
| NM_001943.3:c.3251C>T , LRG_397t1:c.3251C>T (DSG2) | NP_001934.2:p.Pro1084Leu | |
| NR_045216.1:n.1346-731G>A (DSG2-AS1) | ||
| NM_001943.4:c.3251C>T (DSG2) | NP_001934.2:p.Pro1084Leu | |
| XM_024451095.1:c.2717C>T (DSG2) | XP_024306863.1:p.Pro906Leu | |
| NM_001943.5:c.3251C>T (DSG2) MANE Select | NP_001934.2:p.Pro1084Leu |