MyVariant.info:
GRCh38
chr18:g.31546309del
GRCh38
chr18:g.31546308del
GRCh37
chr18:g.29126272del
GRCh37
chr18:g.29126271del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
2.8e-7 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546309del , CM000680.2:g.31546309del | GRCh38 |
| NC_000018.9:g.29126272del , CM000680.1:g.29126272del | GRCh37 |
| NC_000018.8:g.27380270del | NCBI36 |
| NG_007072.3:g.53068del , LRG_397:g.53068del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2923del (DSG2) MANE Select | ENSP00000261590.8:p.Val975Ter | |
| ENST00000261590.12:c.2923del (DSG2) | ENSP00000261590.8:p.Val975Ter | |
| NM_001943.3:c.2923del , LRG_397t1:c.2923del (DSG2) | NP_001934.2:p.Val975Ter | |
| NR_045216.1:n.1346-402del (DSG2-AS1) | ||
| NM_001943.4:c.2923del (DSG2) | NP_001934.2:p.Val975Ter | |
| XM_024451095.1:c.2389del (DSG2) | XP_024306863.1:p.Val797Ter | |
| NM_001943.5:c.2923del (DSG2) MANE Select | NP_001934.2:p.Val975Ter |