Linked Data
ClinVar Variation Id:
204190
dbSNP Id:
rs180177240
gnomAD v4:
2-240873021-CG-C
MyVariant Identifiers:
chr2:g.241812441del (hg19)
chr2:g.241812439del (hg19)
chr2:g.240873024del (hg38)
chr2:g.240873022del (hg38)
PubMed:
PMID:15110324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873024del , CM000664.2:g.240873024del | GRCh38 |
| NC_000002.11:g.241812441del , CM000664.1:g.241812441del | GRCh37 |
| NC_000002.10:g.241461114del | NCBI36 |
| NG_008005.1:g.9280del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.570del MANE Select | ENSP00000302620.3:p.Thr191ProfsTer21 | |
| ENST00000307503.3:c.570del | ENSP00000302620.3:p.Thr191ProfsTer21 | |
| ENST00000472436.1:n.590del | ||
| ENST00000476698.1:n.307del | ||
| NM_000030.2:c.570del | NP_000021.1:p.Thr191ProfsTer21 | |
| NM_000030.3:c.570del MANE Select | NP_000021.1:p.Thr191ProfsTer21 |