Linked Data
ClinVar Variation Id:
204196
ClinVar RCV Id:
RCV000186403
dbSNP Id:
rs1553648931
MyVariant Identifiers:
chr2:g.241813959_241814690delinsTGAGA (hg19)
chr2:g.240874542_240875273delinsTGAGA (hg38)
PubMed:
PMID:21488232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874542_240875273delinsTGAGA , CM000664.2:g.240874542_240875273delinsTGAGA | GRCh38 |
| NC_000002.11:g.241813959_241814690delinsTGAGA , CM000664.1:g.241813959_241814690delinsTGAGA | GRCh37 |
| NC_000002.10:g.241462632_241463363delinsTGAGA | NCBI36 |
| NG_008005.1:g.10798_11529delinsTGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.680+480_776+69delinsTGAGA | ||
| ENST00000307503.3:c.680+480_776+69delinsTGAGA | ||
| ENST00000476698.1:n.333-567_428+69delinsTGAGA | ||
| NM_000030.2:c.680+480_776+69delinsTGAGA | ||
| NM_000030.3:c.680+480_776+69delinsTGAGA |