Linked Data
ClinVar Variation Id:
433152
ClinVar RCV Id:
RCV000498441
dbSNP Id:
rs1553370963
MyVariant Identifiers:
chr2:g.15945763_15945764insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945763dup , CM000664.2:g.15945763dup | GRCh38 |
| NC_000002.11:g.16085885dup , CM000664.1:g.16085885dup | GRCh37 |
| NC_000002.10:g.16003336dup | NCBI36 |
| NG_007457.1:g.10203dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.410dup | ||
| ENST00000281043.4:c.1061dup MANE Select | ENSP00000281043.3:p.Ser355ValfsTer14 | |
| ENST00000638417.1:c.428dup | ENSP00000491476.1:p.Ser144ValfsTer14 | |
| ENST00000281043.3:c.1061dup | ENSP00000281043.3:p.Ser355ValfsTer14 | |
| NM_001293228.1:c.1061dup | NP_001280157.1:p.Ser355ValfsTer14 | |
| NM_001293231.1:c.428dup | NP_001280160.1:p.Ser144ValfsTer14 | |
| NM_001293233.1:c.*996dup | NP_001280162.1:n.*996dup | |
| NM_005378.5:c.1061dup | NP_005369.2:p.Ser355ValfsTer14 | |
| NM_005378.6:c.1061dup MANE Select | NP_005369.2:p.Ser355ValfsTer14 | |
| NM_001293228.2:c.1061dup | NP_001280157.1:p.Ser355ValfsTer14 | |
| NM_001293231.2:c.428dup | NP_001280160.1:p.Ser144ValfsTer14 | |
| NM_001293233.2:c.*996dup | NP_001280162.1:n.*996dup |