Linked Data
ClinVar Variation Id:
3021486
ClinVar RCV Id:
RCV003875109
dbSNP Id:
rs1567935343
gnomAD v4:
18-31546716-T-C
MyVariant Identifiers:
chr18:g.29126679T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546716T>C , CM000680.2:g.31546716T>C | GRCh38 |
| NC_000018.9:g.29126679T>C , CM000680.1:g.29126679T>C | GRCh37 |
| NC_000018.8:g.27380677T>C | NCBI36 |
| NG_007072.3:g.53475T>C , LRG_397:g.53475T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3330T>C (DSG2) MANE Select | ENSP00000261590.8:p.His1110= | |
| ENST00000261590.12:c.3330T>C (DSG2) | ENSP00000261590.8:p.His1110= | |
| NM_001943.3:c.3330T>C , LRG_397t1:c.3330T>C (DSG2) | NP_001934.2:p.His1110= | |
| NR_045216.1:n.1346-810A>G (DSG2-AS1) | ||
| NM_001943.4:c.3330T>C (DSG2) | NP_001934.2:p.His1110= | |
| XM_024451095.1:c.2796T>C (DSG2) | XP_024306863.1:p.His932= | |
| NM_001943.5:c.3330T>C (DSG2) MANE Select | NP_001934.2:p.His1110= |