Linked Data
ClinVar Variation Id:
3072680
ClinVar RCV Id:
RCV004013702
MyVariant Identifiers:
chr18:g.29126664C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546701C>G , CM000680.2:g.31546701C>G | GRCh38 |
| NC_000018.9:g.29126664C>G , CM000680.1:g.29126664C>G | GRCh37 |
| NC_000018.8:g.27380662C>G | NCBI36 |
| NG_007072.3:g.53460C>G , LRG_397:g.53460C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3315C>G (DSG2) MANE Select | ENSP00000261590.8:p.Thr1105= | |
| ENST00000261590.12:c.3315C>G (DSG2) | ENSP00000261590.8:p.Thr1105= | |
| NM_001943.3:c.3315C>G , LRG_397t1:c.3315C>G (DSG2) | NP_001934.2:p.Thr1105= | |
| NR_045216.1:n.1346-795G>C (DSG2-AS1) | ||
| NM_001943.4:c.3315C>G (DSG2) | NP_001934.2:p.Thr1105= | |
| XM_024451095.1:c.2781C>G (DSG2) | XP_024306863.1:p.Thr927= | |
| NM_001943.5:c.3315C>G (DSG2) MANE Select | NP_001934.2:p.Thr1105= |