Linked Data
ClinVar Variation Id:
927246
ClinVar RCV Id:
RCV001190368
dbSNP Id:
rs2073310013
MyVariant Identifiers:
chr18:g.29126331T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546368T>C , CM000680.2:g.31546368T>C | GRCh38 |
| NC_000018.9:g.29126331T>C , CM000680.1:g.29126331T>C | GRCh37 |
| NC_000018.8:g.27380329T>C | NCBI36 |
| NG_007072.3:g.53127T>C , LRG_397:g.53127T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2982T>C (DSG2) MANE Select | ENSP00000261590.8:p.Pro994= | |
| ENST00000261590.12:c.2982T>C (DSG2) | ENSP00000261590.8:p.Pro994= | |
| NM_001943.3:c.2982T>C , LRG_397t1:c.2982T>C (DSG2) | NP_001934.2:p.Pro994= | |
| NR_045216.1:n.1346-462A>G (DSG2-AS1) | ||
| NM_001943.4:c.2982T>C (DSG2) | NP_001934.2:p.Pro994= | |
| XM_024451095.1:c.2448T>C (DSG2) | XP_024306863.1:p.Pro816= | |
| NM_001943.5:c.2982T>C (DSG2) MANE Select | NP_001934.2:p.Pro994= |