Linked Data
ClinVar Variation Id:
179064
dbSNP Id:
rs727504601
ExAC:
18:29126547 A / G
gnomAD v2:
18-29126547-A-G
gnomAD v4:
18-31546584-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546584A>G , CM000680.2:g.31546584A>G | GRCh38 |
| NC_000018.9:g.29126547A>G , CM000680.1:g.29126547A>G | GRCh37 |
| NC_000018.8:g.27380545A>G | NCBI36 |
| NG_007072.3:g.53343A>G , LRG_397:g.53343A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.3198A>G (DSG2) MANE Select | ENSP00000261590.8:p.Glu1066= | |
| ENST00000261590.12:c.3198A>G (DSG2) | ENSP00000261590.8:p.Glu1066= | |
| NM_001943.3:c.3198A>G , LRG_397t1:c.3198A>G (DSG2) | NP_001934.2:p.Glu1066= | |
| NR_045216.1:n.1346-678T>C (DSG2-AS1) | ||
| NM_001943.4:c.3198A>G (DSG2) | NP_001934.2:p.Glu1066= | |
| XM_024451095.1:c.2664A>G (DSG2) | XP_024306863.1:p.Glu888= | |
| NM_001943.5:c.3198A>G (DSG2) MANE Select | NP_001934.2:p.Glu1066= |