Linked Data
dbSNP Id:
rs759572082
ExAC:
18:29122716 G / C
gnomAD v2:
18-29122716-G-C
gnomAD v3:
18-31542753-G-C
gnomAD v4:
18-31542753-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542753G>C , CM000680.2:g.31542753G>C | GRCh38 |
| NC_000018.9:g.29122716G>C , CM000680.1:g.29122716G>C | GRCh37 |
| NC_000018.8:g.27376714G>C | NCBI36 |
| NG_007072.3:g.49512G>C , LRG_397:g.49512G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2235G>C (DSG2) MANE Select | ENSP00000261590.8:p.Thr745= | |
| ENST00000261590.12:c.2235G>C (DSG2) | ENSP00000261590.8:p.Thr745= | |
| NM_001943.3:c.2235G>C , LRG_397t1:c.2235G>C (DSG2) | NP_001934.2:p.Thr745= | |
| NR_045216.1:n.1810+349C>G (DSG2-AS1) | ||
| NM_001943.4:c.2235G>C (DSG2) | NP_001934.2:p.Thr745= | |
| XM_024451095.1:c.1701G>C (DSG2) | XP_024306863.1:p.Thr567= | |
| NM_001943.5:c.2235G>C (DSG2) MANE Select | NP_001934.2:p.Thr745= |