Linked Data
ClinVar Variation Id:
29608
ClinVar RCV Id:
RCV000032601
dbSNP Id:
rs606231236
MyVariant Identifiers:
chr2:g.21256390_21256391dupCC (hg19)
chr2:g.21256389_21256390insCC (hg19)
chr2:g.21033518_21033519dupCC (hg38)
chr2:g.21033517_21033518insCC (hg38)
PubMed:
PMID:21981844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21033518_21033519dup , CM000664.2:g.21033518_21033519dup | GRCh38 |
| NC_000002.11:g.21256390_21256391dup , CM000664.1:g.21256390_21256391dup | GRCh37 |
| NC_000002.10:g.21109895_21109896dup | NCBI36 |
| NG_011793.1:g.15555_15556dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*211-1_*211dup | ||
| ENST00000673882.2:c.*211-1_*211dup | ||
| ENST00000673739.1:c.619-1_619dup | ||
| ENST00000673882.1:c.619-1_619dup | ||
| ENST00000233242.5:c.905-1_905dup | ||
| ENST00000399256.4:c.905-1_905dup | ||
| ENST00000616098.4:c.905-1_905dup | ||
| NM_000384.2:c.905-1_905dup | ||
| XM_011532809.1:c.905-1_905dup | ||
| NM_000384.3:c.905-1_905dup |