Linked Data
ClinVar Variation Id:
418168
ClinVar RCV Id:
RCV000485089
dbSNP Id:
rs1064793103
gnomAD v4:
18-31545742-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31545744del , CM000680.2:g.31545744del | GRCh38 |
| NC_000018.9:g.29125707del , CM000680.1:g.29125707del | GRCh37 |
| NC_000018.8:g.27379705del | NCBI36 |
| NG_007072.3:g.52503del , LRG_397:g.52503del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.2358del (DSG2) MANE Select | ENSP00000261590.8:p.Asp787MetfsTer21 | |
| ENST00000261590.12:c.2358del (DSG2) | ENSP00000261590.8:p.Asp787MetfsTer21 | |
| NM_001943.3:c.2358del , LRG_397t1:c.2358del (DSG2) | NP_001934.2:p.Asp787MetfsTer21 | |
| NR_045216.1:n.1509del (DSG2-AS1) | ||
| NM_001943.4:c.2358del (DSG2) | NP_001934.2:p.Asp787MetfsTer21 | |
| XM_024451095.1:c.1824del (DSG2) | XP_024306863.1:p.Asp609MetfsTer21 | |
| NM_001943.5:c.2358del (DSG2) MANE Select | NP_001934.2:p.Asp787MetfsTer21 |