Linked Data
gnomAD v4:
18-31542848-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542848C>A , CM000680.2:g.31542848C>A | GRCh38 |
| NC_000018.9:g.29122811C>A , CM000680.1:g.29122811C>A | GRCh37 |
| NC_000018.8:g.27376809C>A | NCBI36 |
| NG_007072.3:g.49607C>A , LRG_397:g.49607C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2330C>A (DSG2) MANE Select | ENSP00000261590.8:p.Thr777Asn | |
| ENST00000261590.12:c.2330C>A (DSG2) | ENSP00000261590.8:p.Thr777Asn | |
| NM_001943.3:c.2330C>A , LRG_397t1:c.2330C>A (DSG2) | NP_001934.2:p.Thr777Asn | |
| NR_045216.1:n.1810+254G>T (DSG2-AS1) | ||
| NM_001943.4:c.2330C>A (DSG2) | NP_001934.2:p.Thr777Asn | |
| XM_024451095.1:c.1796C>A (DSG2) | XP_024306863.1:p.Thr599Asn | |
| NM_001943.5:c.2330C>A (DSG2) MANE Select | NP_001934.2:p.Thr777Asn |