Linked Data
ClinVar Variation Id:
192366
ClinVar RCV Id:
RCV000172992
dbSNP Id:
rs879255577
MyVariant Identifiers:
chr2:g.96781203_96781214delinsCTGCCAAAC (hg19)
chr2:g.96115464_96115475delinsCTGCCAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96115464_96115475delinsCTGCCAAAC , CM000664.2:g.96115464_96115475delinsCTGCCAAAC | GRCh38 |
| NC_000002.11:g.96781203_96781214delinsCTGCCAAAC , CM000664.1:g.96781203_96781214delinsCTGCCAAAC | GRCh37 |
| NC_000002.10:g.96144930_96144941delinsCTGCCAAAC | NCBI36 |
| NG_032950.1:g.5675_5686delinsGTTTGGCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620793.2:c.675_686delinsGTTTGGCAG MANE Select | ENSP00000480573.1:p.His225_Leu229delinsGl... | |
| ENST00000620793.1:c.675_686delinsGTTTGGCAG | ENSP00000480573.1:p.His225_Leu229delinsGl... | |
| NM_000682.6:c.675_686delinsGTTTGGCAG | NP_000673.2:p.His225_Leu229delinsGlnPheGl... | |
| NM_000682.7:c.675_686delinsGTTTGGCAG MANE Select | NP_000673.2:p.His225_Leu229delinsGlnPheGl... |