Linked Data
ClinVar Variation Id:
420800
dbSNP Id:
rs1064794709
gnomAD v2:
18-29126302-GT-G
gnomAD v4:
18-31546339-GT-G
MyVariant Identifiers:
chr18:g.29126304del (hg19)
chr18:g.29126303del (hg19)
chr18:g.31546341del (hg38)
chr18:g.31546340del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546341del , CM000680.2:g.31546341del | GRCh38 |
| NC_000018.9:g.29126304del , CM000680.1:g.29126304del | GRCh37 |
| NC_000018.8:g.27380302del | NCBI36 |
| NG_007072.3:g.53100del , LRG_397:g.53100del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.2955del (DSG2) MANE Select | ENSP00000261590.8:p.Val986TrpfsTer6 | |
| ENST00000261590.12:c.2955del (DSG2) | ENSP00000261590.8:p.Val986TrpfsTer6 | |
| NM_001943.3:c.2955del , LRG_397t1:c.2955del (DSG2) | NP_001934.2:p.Val986TrpfsTer6 | |
| NR_045216.1:n.1346-434del (DSG2-AS1) | ||
| NM_001943.4:c.2955del (DSG2) | NP_001934.2:p.Val986TrpfsTer6 | |
| XM_024451095.1:c.2421del (DSG2) | XP_024306863.1:p.Val808TrpfsTer6 | |
| NM_001943.5:c.2955del (DSG2) MANE Select | NP_001934.2:p.Val986TrpfsTer6 |