Linked Data
dbSNP Id:
rs780415786
ExAC:
18:29126378 A / T
gnomAD v2:
18-29126378-A-T
gnomAD v4:
18-31546415-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546415A>T , CM000680.2:g.31546415A>T | GRCh38 |
| NC_000018.9:g.29126378A>T , CM000680.1:g.29126378A>T | GRCh37 |
| NC_000018.8:g.27380376A>T | NCBI36 |
| NG_007072.3:g.53174A>T , LRG_397:g.53174A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.3029A>T (DSG2) MANE Select | ENSP00000261590.8:p.Asp1010Val | |
| ENST00000261590.12:c.3029A>T (DSG2) | ENSP00000261590.8:p.Asp1010Val | |
| NM_001943.3:c.3029A>T , LRG_397t1:c.3029A>T (DSG2) | NP_001934.2:p.Asp1010Val | |
| NR_045216.1:n.1346-509T>A (DSG2-AS1) | ||
| NM_001943.4:c.3029A>T (DSG2) | NP_001934.2:p.Asp1010Val | |
| XM_024451095.1:c.2495A>T (DSG2) | XP_024306863.1:p.Asp832Val | |
| NM_001943.5:c.3029A>T (DSG2) MANE Select | NP_001934.2:p.Asp1010Val |