Linked Data
ClinVar Variation Id:
2906632
ClinVar RCV Id:
RCV003632724
dbSNP Id:
rs2073275317
gnomAD v4:
18-31542593-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542593A>C , CM000680.2:g.31542593A>C | GRCh38 |
| NC_000018.9:g.29122556A>C , CM000680.1:g.29122556A>C | GRCh37 |
| NC_000018.8:g.27376554A>C | NCBI36 |
| NG_007072.3:g.49352A>C , LRG_397:g.49352A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2075A>C (DSG2) MANE Select | ENSP00000261590.8:p.Lys692Thr | |
| ENST00000261590.12:c.2075A>C (DSG2) | ENSP00000261590.8:p.Lys692Thr | |
| NM_001943.3:c.2075A>C , LRG_397t1:c.2075A>C (DSG2) | NP_001934.2:p.Lys692Thr | |
| NR_045216.1:n.1811-272T>G (DSG2-AS1) | ||
| NM_001943.4:c.2075A>C (DSG2) | NP_001934.2:p.Lys692Thr | |
| XM_024451095.1:c.1541A>C (DSG2) | XP_024306863.1:p.Lys514Thr | |
| NM_001943.5:c.2075A>C (DSG2) MANE Select | NP_001934.2:p.Lys692Thr |