Linked Data
ClinVar Variation Id:
219002
ClinVar RCV Id:
RCV000203351
dbSNP Id:
rs864309743
MyVariant Identifiers:
chr2:g.150432974dupG (hg19)
chr2:g.150432973_150432974insG (hg19)
chr2:g.149576460dupG (hg38)
chr2:g.149576459_149576460insG (hg38)
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149576460dup , CM000664.2:g.149576460dup | GRCh38 |
| NC_000002.11:g.150432974dup , CM000664.1:g.150432974dup | GRCh37 |
| NC_000002.10:g.150141220dup | NCBI36 |
| NG_009189.1:g.16357dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.455dup MANE Select | ENSP00000301920.5:p.Cys153MetfsTer10 | |
| ENST00000303319.9:c.455dup | ENSP00000301920.5:p.Cys153MetfsTer10 | |
| ENST00000422782.2:c.455dup | ENSP00000408331.2:p.Cys153MetfsTer10 | |
| ENST00000428879.5:c.455dup | ENSP00000389060.1:p.Cys153MetfsTer10 | |
| NM_015702.2:c.455dup | NP_056517.1:p.Cys153MetfsTer10 | |
| NM_015702.3:c.455dup MANE Select | NP_056517.1:p.Cys153MetfsTer10 |