Linked Data
ClinVar Variation Id:
193142
dbSNP Id:
rs796065322
MyVariant Identifiers:
chr2:g.29294069_29294070delinsCT (hg19)
chr2:g.29071203_29071204delinsCT (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071203_29071204delinsCT , CM000664.2:g.29071203_29071204delinsCT | GRCh38 |
| NC_000002.11:g.29294069_29294070delinsCT , CM000664.1:g.29294069_29294070delinsCT | GRCh37 |
| NC_000002.10:g.29147573_29147574delinsCT | NCBI36 |
| NG_021427.1:g.8058_8059delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3058_3059delinsAG MANE Select | ENSP00000332809.4:p.Gln1020Arg | |
| ENST00000331664.5:c.3058_3059delinsAG | ENSP00000332809.4:p.Gln1020Arg | |
| NM_001029883.2:c.3058_3059delinsAG | NP_001025054.1:p.Gln1020Arg | |
| XM_011532826.1:c.3058_3059delinsAG | XP_011531128.1:p.Gln1020Arg | |
| XR_939901.1:n.185+2036_185+2037delinsCT | ||
| XR_939902.1:n.173+2048_173+2049delinsCT | ||
| NM_001029883.3:c.3058_3059delinsAG MANE Select | NP_001025054.1:p.Gln1020Arg |