Linked Data
ClinVar Variation Id:
44314
ClinVar RCV Id:
RCV000037302
RCV000622126
RCV000771829
RCV001082544
RCV000845296
RCV002496585
RCV003996321
RCV003924917
dbSNP Id:
rs79068489
ExAC:
18:29126644 A / G
gnomAD v2:
18-29126644-A-G
gnomAD v3:
18-31546681-A-G
gnomAD v4:
18-31546681-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546681A>G , CM000680.2:g.31546681A>G | GRCh38 |
| NC_000018.9:g.29126644A>G , CM000680.1:g.29126644A>G | GRCh37 |
| NC_000018.8:g.27380642A>G | NCBI36 |
| NG_007072.3:g.53440A>G , LRG_397:g.53440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3295A>G (DSG2) MANE Select | ENSP00000261590.8:p.Thr1099Ala | |
| ENST00000261590.12:c.3295A>G (DSG2) | ENSP00000261590.8:p.Thr1099Ala | |
| NM_001943.3:c.3295A>G , LRG_397t1:c.3295A>G (DSG2) | NP_001934.2:p.Thr1099Ala | |
| NR_045216.1:n.1346-775T>C (DSG2-AS1) | ||
| NM_001943.4:c.3295A>G (DSG2) | NP_001934.2:p.Thr1099Ala | |
| XM_024451095.1:c.2761A>G (DSG2) | XP_024306863.1:p.Thr921Ala | |
| NM_001943.5:c.3295A>G (DSG2) MANE Select | NP_001934.2:p.Thr1099Ala |