Linked Data
ClinVar Variation Id:
2061553
ClinVar RCV Id:
RCV002942815
MyVariant Identifiers:
chr18:g.29122716G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542753G>T , CM000680.2:g.31542753G>T | GRCh38 |
| NC_000018.9:g.29122716G>T , CM000680.1:g.29122716G>T | GRCh37 |
| NC_000018.8:g.27376714G>T | NCBI36 |
| NG_007072.3:g.49512G>T , LRG_397:g.49512G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2235G>T (DSG2) MANE Select | ENSP00000261590.8:p.Thr745= | |
| ENST00000261590.12:c.2235G>T (DSG2) | ENSP00000261590.8:p.Thr745= | |
| NM_001943.3:c.2235G>T , LRG_397t1:c.2235G>T (DSG2) | NP_001934.2:p.Thr745= | |
| NR_045216.1:n.1810+349C>A (DSG2-AS1) | ||
| NM_001943.4:c.2235G>T (DSG2) | NP_001934.2:p.Thr745= | |
| XM_024451095.1:c.1701G>T (DSG2) | XP_024306863.1:p.Thr567= | |
| NM_001943.5:c.2235G>T (DSG2) MANE Select | NP_001934.2:p.Thr745= |