Linked Data
ClinVar Variation Id:
1656016
ClinVar RCV Id:
RCV002161489
dbSNP Id:
rs1322460685
gnomAD v2:
18-29126337-G-C
gnomAD v4:
18-31546374-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546374G>C , CM000680.2:g.31546374G>C | GRCh38 |
| NC_000018.9:g.29126337G>C , CM000680.1:g.29126337G>C | GRCh37 |
| NC_000018.8:g.27380335G>C | NCBI36 |
| NG_007072.3:g.53133G>C , LRG_397:g.53133G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2988G>C (DSG2) MANE Select | ENSP00000261590.8:p.Gly996= | |
| ENST00000261590.12:c.2988G>C (DSG2) | ENSP00000261590.8:p.Gly996= | |
| NM_001943.3:c.2988G>C , LRG_397t1:c.2988G>C (DSG2) | NP_001934.2:p.Gly996= | |
| NR_045216.1:n.1346-468C>G (DSG2-AS1) | ||
| NM_001943.4:c.2988G>C (DSG2) | NP_001934.2:p.Gly996= | |
| XM_024451095.1:c.2454G>C (DSG2) | XP_024306863.1:p.Gly818= | |
| NM_001943.5:c.2988G>C (DSG2) MANE Select | NP_001934.2:p.Gly996= |