Linked Data
ClinVar Variation Id:
219001
ClinVar RCV Id:
RCV000203311
dbSNP Id:
rs864309742
MyVariant Identifiers:
chr2:g.150438734_150438735insAT (hg19)
chr2:g.149582220_149582221insAT (hg38)
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149582221_149582222insTA , CM000664.2:g.149582221_149582222insTA | GRCh38 |
| NC_000002.11:g.150438735_150438736insTA , CM000664.1:g.150438735_150438736insTA | GRCh37 |
| NC_000002.10:g.150146981_150146982insTA | NCBI36 |
| NG_009189.1:g.10596_10597insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.60_61insAT MANE Select | ENSP00000301920.5:p.Leu21IlefsTer2 | |
| ENST00000303319.9:c.60_61insAT | ENSP00000301920.5:p.Leu21IlefsTer2 | |
| ENST00000422782.2:c.60_61insAT | ENSP00000408331.2:p.Leu21IlefsTer2 | |
| ENST00000428879.5:c.60_61insAT | ENSP00000389060.1:p.Leu21IlefsTer2 | |
| NM_015702.2:c.60_61insAT | NP_056517.1:p.Leu21IlefsTer2 | |
| NM_015702.3:c.60_61insAT MANE Select | NP_056517.1:p.Leu21IlefsTer2 |