Linked Data
dbSNP Id:
rs778221328
ExAC:
18:29126731 C / CAG
gnomAD v2:
18-29126731-C-CAG
gnomAD v3:
18-31546768-C-CAG
gnomAD v4:
18-31546768-C-CAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546771_31546772dup , CM000680.2:g.31546771_31546772dup | GRCh38 |
| NC_000018.9:g.29126734_29126735dup , CM000680.1:g.29126734_29126735dup | GRCh37 |
| NC_000018.8:g.27380732_27380733dup | NCBI36 |
| NG_007072.3:g.53530_53531dup , LRG_397:g.53530_53531dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.*28_*29dup (DSG2) MANE Select | ENSP00000261590.8:n.*28_*29dup | |
| ENST00000261590.12:c.*28_*29dup (DSG2) | ENSP00000261590.8:n.*28_*29dup | |
| NM_001943.3:c.*28_*29dup , LRG_397t1:c.*28_*29dup (DSG2) | NP_001934.2:n.*28_*29dup | |
| NR_045216.1:n.1346-864_1346-863dup (DSG2-AS1) | ||
| NM_001943.4:c.*28_*29dup (DSG2) | NP_001934.2:n.*28_*29dup | |
| XM_024451095.1:c.*28_*29dup (DSG2) | XP_024306863.1:n.*28_*29dup | |
| NM_001943.5:c.*28_*29dup (DSG2) MANE Select | NP_001934.2:n.*28_*29dup |