Linked Data
ClinVar Variation Id:
326498
ClinVar RCV Id:
RCV000272912
dbSNP Id:
rs747504155
gnomAD v2:
18-29127006-G-A
gnomAD v3:
18-31547043-G-A
gnomAD v4:
18-31547043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31547043G>A , CM000680.2:g.31547043G>A | GRCh38 |
| NC_000018.9:g.29127006G>A , CM000680.1:g.29127006G>A | GRCh37 |
| NC_000018.8:g.27381004G>A | NCBI36 |
| NG_007072.3:g.53802G>A , LRG_397:g.53802G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.*300G>A (DSG2) MANE Select | ENSP00000261590.8:n.*300G>A | |
| ENST00000261590.12:c.*300G>A (DSG2) | ENSP00000261590.8:n.*300G>A | |
| NM_001943.3:c.*300G>A , LRG_397t1:c.*300G>A (DSG2) | NP_001934.2:n.*300G>A | |
| NR_045216.1:n.1346-1137C>T (DSG2-AS1) | ||
| NM_001943.4:c.*300G>A (DSG2) | NP_001934.2:n.*300G>A | |
| XM_024451095.1:c.*300G>A (DSG2) | XP_024306863.1:n.*300G>A | |
| NM_001943.5:c.*300G>A (DSG2) MANE Select | NP_001934.2:n.*300G>A |