Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542822C>G , CM000680.2:g.31542822C>G | GRCh38 |
| NC_000018.9:g.29122785C>G , CM000680.1:g.29122785C>G | GRCh37 |
| NC_000018.8:g.27376783C>G | NCBI36 |
| NG_007072.3:g.49581C>G , LRG_397:g.49581C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.2304C>G (DSG2) MANE Select | NP_001934.2:p.Asn768Lys |
| ENST00000261590.13:c.2304C>G (DSG2) MANE Select | ENSP00000261590.8:p.Asn768Lys |
| NM_001943.3:c.2304C>G , LRG_397t1:c.2304C>G (DSG2) | NP_001934.2:p.Asn768Lys |
| NM_001943.4:c.2304C>G (DSG2) | NP_001934.2:p.Asn768Lys |
| NR_045216.1:n.1810+280G>C (DSG2-AS1) | |
| ENST00000261590.12:c.2304C>G (DSG2) | ENSP00000261590.8:p.Asn768Lys |
| XM_024451095.1:c.1770C>G (DSG2) | XP_024306863.1:p.Asn590Lys |