Linked Data
ClinVar Variation Id:
101290
ClinVar RCV Id:
RCV000087528
dbSNP Id:
rs587779579
MyVariant Identifiers:
chr2:g.189858104_189858105insGACCCTGCA (hg19)
chr2:g.188993378_188993379insGACCCTGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993379_188993380insACCCTGCAG , CM000664.2:g.188993379_188993380insACCCTGCAG | GRCh38 |
| NC_000002.11:g.189858105_189858106insACCCTGCAG , CM000664.1:g.189858105_189858106insACCCTGCAG | GRCh37 |
| NC_000002.10:g.189566350_189566351insACCCTGCAG | NCBI36 |
| NG_007404.1:g.24007_24008insACCCTGCAG , LRG_3:g.24007_24008insACCCTGCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.1050+439_1050+440insACCCTGCAG | ENSP00000415346.2:n.1050+439_1050+440insA... | |
| ENST00000304636.9:c.1069_1070insACCCTGCAG MANE Select | ENSP00000304408.4:p.Ala356_Gly357insAspPr... | |
| ENST00000304636.7:c.1069_1070insACCCTGCAG | ENSP00000304408.3:p.Ala356_Gly357insAspPr... | |
| ENST00000317840.9:c.1069_1070insACCCTGCAG | ENSP00000315243.6:p.Ala356_Gly357insAspPr... | |
| ENST00000450867.1:c.148+439_148+440insACCCTGCAG | ||
| NM_000090.3:c.1069_1070insACCCTGCAG , LRG_3t1:c.1069_1070insACCCTGCAG | NP_000081.1:p.Ala356_Gly357insAspProAla | |
| NM_000090.4:c.1069_1070insACCCTGCAG MANE Select | NP_000081.2:p.Ala356_Gly357insAspProAla |