Linked Data
ClinVar Variation Id:
264559
ClinVar RCV Id:
RCV002487164
dbSNP Id:
rs886039190
gnomAD v2:
18-29126051-A-G
gnomAD v3:
18-31546088-A-G
gnomAD v4:
18-31546088-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546088A>G , CM000680.2:g.31546088A>G | GRCh38 |
| NC_000018.9:g.29126051A>G , CM000680.1:g.29126051A>G | GRCh37 |
| NC_000018.8:g.27380049A>G | NCBI36 |
| NG_007072.3:g.52847A>G , LRG_397:g.52847A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.2702A>G (DSG2) MANE Select | ENSP00000261590.8:p.Lys901Arg | |
| ENST00000261590.12:c.2702A>G (DSG2) | ENSP00000261590.8:p.Lys901Arg | |
| NM_001943.3:c.2702A>G , LRG_397t1:c.2702A>G (DSG2) | NP_001934.2:p.Lys901Arg | |
| NR_045216.1:n.1346-182T>C (DSG2-AS1) | ||
| NM_001943.4:c.2702A>G (DSG2) | NP_001934.2:p.Lys901Arg | |
| XM_024451095.1:c.2168A>G (DSG2) | XP_024306863.1:p.Lys723Arg | |
| NM_001943.5:c.2702A>G (DSG2) MANE Select | NP_001934.2:p.Lys901Arg |