Linked Data
ClinVar Variation Id:
402516
ClinVar RCV Id:
RCV000455432
dbSNP Id:
rs11450450
COSMIC:
COSM5022137
MyVariant Identifiers:
chr2:g.70835704dupC (hg38)
chr2:g.70835703_70835704insC (hg38)
chr2:g.70835702_70835703insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70835704dup , CM000664.2:g.70835704dup | GRCh38 |
| NG_033914.1:g.5121dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.73+1dup | ||
| ENST00000410009.4:c.73+1dup | ||
| NM_015717.4:c.73+1dup | ||
| XM_011532874.1:c.73+1dup | ||
| XM_011532875.1:c.73+1dup | ||
| XM_011532876.1:c.73+1dup | ||
| XM_011532875.2:c.73+1dup | ||
| XM_011532876.2:c.73+1dup | ||
| NM_015717.5:c.73+1dup |