Linked Data
ClinVar Variation Id:
1420577
ClinVar RCV Id:
RCV001943578
dbSNP Id:
rs2144353065
gnomAD v4:
18-31542595-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542595G>A , CM000680.2:g.31542595G>A | GRCh38 |
| NC_000018.9:g.29122558G>A , CM000680.1:g.29122558G>A | GRCh37 |
| NC_000018.8:g.27376556G>A | NCBI36 |
| NG_007072.3:g.49354G>A , LRG_397:g.49354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2077G>A (DSG2) MANE Select | ENSP00000261590.8:p.Glu693Lys | |
| ENST00000261590.12:c.2077G>A (DSG2) | ENSP00000261590.8:p.Glu693Lys | |
| NM_001943.3:c.2077G>A , LRG_397t1:c.2077G>A (DSG2) | NP_001934.2:p.Glu693Lys | |
| NR_045216.1:n.1811-274C>T (DSG2-AS1) | ||
| NM_001943.4:c.2077G>A (DSG2) | NP_001934.2:p.Glu693Lys | |
| XM_024451095.1:c.1543G>A (DSG2) | XP_024306863.1:p.Glu515Lys | |
| NM_001943.5:c.2077G>A (DSG2) MANE Select | NP_001934.2:p.Glu693Lys |