Linked Data
dbSNP Id:
rs770013173
ExAC:
18:29126098 G / A
gnomAD v2:
18-29126098-G-A
gnomAD v4:
18-31546135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546135G>A , CM000680.2:g.31546135G>A | GRCh38 |
| NC_000018.9:g.29126098G>A , CM000680.1:g.29126098G>A | GRCh37 |
| NC_000018.8:g.27380096G>A | NCBI36 |
| NG_007072.3:g.52894G>A , LRG_397:g.52894G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2749G>A (DSG2) MANE Select | ENSP00000261590.8:p.Ala917Thr | |
| ENST00000261590.12:c.2749G>A (DSG2) | ENSP00000261590.8:p.Ala917Thr | |
| NM_001943.3:c.2749G>A , LRG_397t1:c.2749G>A (DSG2) | NP_001934.2:p.Ala917Thr | |
| NR_045216.1:n.1346-229C>T (DSG2-AS1) | ||
| NM_001943.4:c.2749G>A (DSG2) | NP_001934.2:p.Ala917Thr | |
| XM_024451095.1:c.2215G>A (DSG2) | XP_024306863.1:p.Ala739Thr | |
| NM_001943.5:c.2749G>A (DSG2) MANE Select | NP_001934.2:p.Ala917Thr |