Linked Data
ClinVar Variation Id:
326496
ClinVar RCV Id:
RCV000276280
dbSNP Id:
rs555035341
gnomAD v2:
18-29126944-T-G
gnomAD v3:
18-31546981-T-G
gnomAD v4:
18-31546981-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546981T>G , CM000680.2:g.31546981T>G | GRCh38 |
| NC_000018.9:g.29126944T>G , CM000680.1:g.29126944T>G | GRCh37 |
| NC_000018.8:g.27380942T>G | NCBI36 |
| NG_007072.3:g.53740T>G , LRG_397:g.53740T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.*238T>G (DSG2) MANE Select | ENSP00000261590.8:n.*238T>G | |
| ENST00000261590.12:c.*238T>G (DSG2) | ENSP00000261590.8:n.*238T>G | |
| NM_001943.3:c.*238T>G , LRG_397t1:c.*238T>G (DSG2) | NP_001934.2:n.*238T>G | |
| NR_045216.1:n.1346-1075A>C (DSG2-AS1) | ||
| NM_001943.4:c.*238T>G (DSG2) | NP_001934.2:n.*238T>G | |
| XM_024451095.1:c.*238T>G (DSG2) | XP_024306863.1:n.*238T>G | |
| NM_001943.5:c.*238T>G (DSG2) MANE Select | NP_001934.2:n.*238T>G |