Linked Data
ClinVar Variation Id:
921979
ClinVar RCV Id:
RCV001181742
dbSNP Id:
rs752557148
ExAC:
18:29122607 A / G
gnomAD v2:
18-29122607-A-G
gnomAD v4:
18-31542644-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542644A>G , CM000680.2:g.31542644A>G | GRCh38 |
| NC_000018.9:g.29122607A>G , CM000680.1:g.29122607A>G | GRCh37 |
| NC_000018.8:g.27376605A>G | NCBI36 |
| NG_007072.3:g.49403A>G , LRG_397:g.49403A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2126A>G (DSG2) MANE Select | ENSP00000261590.8:p.His709Arg | |
| ENST00000261590.12:c.2126A>G (DSG2) | ENSP00000261590.8:p.His709Arg | |
| NM_001943.3:c.2126A>G , LRG_397t1:c.2126A>G (DSG2) | NP_001934.2:p.His709Arg | |
| NR_045216.1:n.1811-323T>C (DSG2-AS1) | ||
| NM_001943.4:c.2126A>G (DSG2) | NP_001934.2:p.His709Arg | |
| XM_024451095.1:c.1592A>G (DSG2) | XP_024306863.1:p.His531Arg | |
| NM_001943.5:c.2126A>G (DSG2) MANE Select | NP_001934.2:p.His709Arg |