Linked Data
ClinVar Variation Id:
177961
ClinVar RCV Id:
RCV000154627
RCV000618561
RCV000771841
RCV000845294
RCV001086616
RCV002478453
RCV003927491
RCV003998257
dbSNP Id:
rs114544564
ExAC:
18:29125717 C / T
gnomAD v2:
18-29125717-C-T
gnomAD v3:
18-31545754-C-T
gnomAD v4:
18-31545754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31545754C>T , CM000680.2:g.31545754C>T | GRCh38 |
| NC_000018.9:g.29125717C>T , CM000680.1:g.29125717C>T | GRCh37 |
| NC_000018.8:g.27379715C>T | NCBI36 |
| NG_007072.3:g.52513C>T , LRG_397:g.52513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2368C>T (DSG2) MANE Select | ENSP00000261590.8:p.His790Tyr | |
| ENST00000261590.12:c.2368C>T (DSG2) | ENSP00000261590.8:p.His790Tyr | |
| NM_001943.3:c.2368C>T , LRG_397t1:c.2368C>T (DSG2) | NP_001934.2:p.His790Tyr | |
| NR_045216.1:n.1498G>A (DSG2-AS1) | ||
| NM_001943.4:c.2368C>T (DSG2) | NP_001934.2:p.His790Tyr | |
| XM_024451095.1:c.1834C>T (DSG2) | XP_024306863.1:p.His612Tyr | |
| NM_001943.5:c.2368C>T (DSG2) MANE Select | NP_001934.2:p.His790Tyr |