Linked Data
ClinVar Variation Id:
332501
ClinVar RCV Id:
RCV000376833
dbSNP Id:
rs886055161
MyVariant Identifiers:
chr2:g.176984194delinsTATATATATAT (hg19)
chr2:g.176119466delinsTATATATATAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119466delinsTATATATATAT , CM000664.2:g.176119466delinsTATATATATAT | GRCh38 |
| NC_000002.11:g.176984194delinsTATATATATAT , CM000664.1:g.176984194delinsTATATATATAT | GRCh37 |
| NC_000002.10:g.176692440delinsTATATATATAT | NCBI36 |
| NG_008133.2:g.12703delinsTATATATATAT , LRG_246:g.12703delinsTATATATATAT | |
| NG_009225.1:g.1782delinsTATATATATAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*235delinsTATATATATAT MANE Select | ENSP00000249501.4:n.*235delinsTATATATATAT | |
| ENST00000249501.4:c.*235delinsTATATATATAT | ENSP00000249501.4:n.*235delinsTATATATATAT | |
| NM_002148.3:c.*235delinsTATATATATAT , LRG_246t1:c.*235delinsTATATATATAT | NP_002139.2:n.*235delinsTATATATATAT | |
| NM_002148.4:c.*235delinsTATATATATAT MANE Select | NP_002139.2:n.*235delinsTATATATATAT |