gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000063 (NFE)
Genomes Max Group AF
0.0000101 (AFR)
Exomes Max Group AF
0.00000543 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542822C>T , CM000680.2:g.31542822C>T | GRCh38 |
| NC_000018.9:g.29122785C>T , CM000680.1:g.29122785C>T | GRCh37 |
| NC_000018.8:g.27376783C>T | NCBI36 |
| NG_007072.3:g.49581C>T , LRG_397:g.49581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2304C>T (DSG2) MANE Select | ENSP00000261590.8:p.Asn768= | |
| ENST00000261590.12:c.2304C>T (DSG2) | ENSP00000261590.8:p.Asn768= | |
| NM_001943.3:c.2304C>T , LRG_397t1:c.2304C>T (DSG2) | NP_001934.2:p.Asn768= | |
| NR_045216.1:n.1810+280G>A (DSG2-AS1) | ||
| NM_001943.4:c.2304C>T (DSG2) | NP_001934.2:p.Asn768= | |
| XM_024451095.1:c.1770C>T (DSG2) | XP_024306863.1:p.Asn590= | |
| NM_001943.5:c.2304C>T (DSG2) MANE Select | NP_001934.2:p.Asn768= |