Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542734T>G , CM000680.2:g.31542734T>G | GRCh38 |
| NC_000018.9:g.29122697T>G , CM000680.1:g.29122697T>G | GRCh37 |
| NC_000018.8:g.27376695T>G | NCBI36 |
| NG_007072.3:g.49493T>G , LRG_397:g.49493T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.2216T>G (DSG2) MANE Select | NP_001934.2:p.Ile739Ser |
| ENST00000261590.13:c.2216T>G (DSG2) MANE Select | ENSP00000261590.8:p.Ile739Ser |
| NM_001943.3:c.2216T>G , LRG_397t1:c.2216T>G (DSG2) | NP_001934.2:p.Ile739Ser |
| NM_001943.4:c.2216T>G (DSG2) | NP_001934.2:p.Ile739Ser |
| NR_045216.1:n.1810+368A>C (DSG2-AS1) | |
| ENST00000261590.12:c.2216T>G (DSG2) | ENSP00000261590.8:p.Ile739Ser |
| XM_024451095.1:c.1682T>G (DSG2) | XP_024306863.1:p.Ile561Ser |