Linked Data
dbSNP Id:
rs2073322438
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31547517_31547519dup , CM000680.2:g.31547517_31547519dup | GRCh38 |
| NC_000018.9:g.29127480_29127482dup , CM000680.1:g.29127480_29127482dup | GRCh37 |
| NC_000018.8:g.27381478_27381480dup | NCBI36 |
| NG_007072.3:g.54276_54278dup , LRG_397:g.54276_54278dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.*774_*776dup (DSG2) MANE Select | ENSP00000261590.8:n.*774_*776dup | |
| ENST00000261590.12:c.*774_*776dup (DSG2) | ENSP00000261590.8:n.*774_*776dup | |
| NM_001943.3:c.*774_*776dup , LRG_397t1:c.*774_*776dup (DSG2) | NP_001934.2:n.*774_*776dup | |
| NR_045216.1:n.1346-1611_1346-1609dup (DSG2-AS1) | ||
| NM_001943.4:c.*774_*776dup (DSG2) | NP_001934.2:n.*774_*776dup | |
| NM_001943.5:c.*774_*776dup (DSG2) MANE Select | NP_001934.2:n.*774_*776dup |