Linked Data
ClinVar Variation Id:
925580
ClinVar RCV Id:
RCV001187588
dbSNP Id:
rs543979536
ExAC:
18:29126462 T / C
gnomAD v2:
18-29126462-T-C
gnomAD v3:
18-31546499-T-C
gnomAD v4:
18-31546499-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546499T>C , CM000680.2:g.31546499T>C | GRCh38 |
| NC_000018.9:g.29126462T>C , CM000680.1:g.29126462T>C | GRCh37 |
| NC_000018.8:g.27380460T>C | NCBI36 |
| NG_007072.3:g.53258T>C , LRG_397:g.53258T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.3113T>C (DSG2) MANE Select | ENSP00000261590.8:p.Ile1038Thr | |
| ENST00000261590.12:c.3113T>C (DSG2) | ENSP00000261590.8:p.Ile1038Thr | |
| NM_001943.3:c.3113T>C , LRG_397t1:c.3113T>C (DSG2) | NP_001934.2:p.Ile1038Thr | |
| NR_045216.1:n.1346-593A>G (DSG2-AS1) | ||
| NM_001943.4:c.3113T>C (DSG2) | NP_001934.2:p.Ile1038Thr | |
| XM_024451095.1:c.2579T>C (DSG2) | XP_024306863.1:p.Ile860Thr | |
| NM_001943.5:c.3113T>C (DSG2) MANE Select | NP_001934.2:p.Ile1038Thr |