ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546509dup , CM000680.2:g.31546509dup | GRCh38 |
| NC_000018.9:g.29126472dup , CM000680.1:g.29126472dup | GRCh37 |
| NC_000018.8:g.27380470dup | NCBI36 |
| NG_007072.3:g.53268dup , LRG_397:g.53268dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3123dup (DSG2) MANE Select | ENSP00000261590.8:p.Gln1042ThrfsTer25 | |
| ENST00000261590.12:c.3123dup (DSG2) | ENSP00000261590.8:p.Gln1042ThrfsTer25 | |
| NM_001943.3:c.3123dup , LRG_397t1:c.3123dup (DSG2) | NP_001934.2:p.Gln1042ThrfsTer25 | |
| NR_045216.1:n.1346-603dup (DSG2-AS1) | ||
| NM_001943.4:c.3123dup (DSG2) | NP_001934.2:p.Gln1042ThrfsTer25 | |
| XM_024451095.1:c.2589dup (DSG2) | XP_024306863.1:p.Gln864ThrfsTer25 | |
| NM_001943.5:c.3123dup (DSG2) MANE Select | NP_001934.2:p.Gln1042ThrfsTer25 |