Linked Data
ClinVar Variation Id:
199832
ClinVar RCV Id:
RCV002444727
dbSNP Id:
rs369868954
ExAC:
18:29125709 A / G
gnomAD v2:
18-29125709-A-G
gnomAD v3:
18-31545746-A-G
gnomAD v4:
18-31545746-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31545746A>G , CM000680.2:g.31545746A>G | GRCh38 |
| NC_000018.9:g.29125709A>G , CM000680.1:g.29125709A>G | GRCh37 |
| NC_000018.8:g.27379707A>G | NCBI36 |
| NG_007072.3:g.52505A>G , LRG_397:g.52505A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.2360A>G (DSG2) MANE Select | ENSP00000261590.8:p.Asp787Gly | |
| ENST00000261590.12:c.2360A>G (DSG2) | ENSP00000261590.8:p.Asp787Gly | |
| NM_001943.3:c.2360A>G , LRG_397t1:c.2360A>G (DSG2) | NP_001934.2:p.Asp787Gly | |
| NR_045216.1:n.1506T>C (DSG2-AS1) | ||
| NM_001943.4:c.2360A>G (DSG2) | NP_001934.2:p.Asp787Gly | |
| XM_024451095.1:c.1826A>G (DSG2) | XP_024306863.1:p.Asp609Gly | |
| NM_001943.5:c.2360A>G (DSG2) MANE Select | NP_001934.2:p.Asp787Gly |