Linked Data
ClinVar Variation Id:
555248
ClinVar RCV Id:
RCV000671035
dbSNP Id:
rs1553313192
MyVariant Identifiers:
chr2:g.26204057_26204060dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204058_26204061dup , CM000664.2:g.26204058_26204061dup | GRCh38 |
| NC_000002.11:g.26426927_26426930dup , CM000664.1:g.26426927_26426930dup | GRCh37 |
| NC_000002.10:g.26280431_26280434dup | NCBI36 |
| NG_007121.1:g.45561_45564dup | |
| NG_007121.2:g.45562_45565dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1220+2_1220+5dup MANE Select | ENSP00000370023.3:n.1220+2_1220+5dup | |
| ENST00000492433.2:c.1220+2_1220+5dup | ENSP00000438039.2:n.1220+2_1220+5dup | |
| ENST00000643057.1:c.*1111+2_*1111+5dup | ENSP00000493761.1:n.*1111+2_*1111+5dup | |
| ENST00000643063.1:c.*266+2_*266+5dup | ENSP00000495353.1:n.*266+2_*266+5dup | |
| ENST00000643233.1:c.*1111+2_*1111+5dup | ENSP00000493880.1:n.*1111+2_*1111+5dup | |
| ENST00000644428.1:c.1220+2_1220+5dup | ENSP00000495560.1:n.1220+2_1220+5dup | |
| ENST00000645274.1:c.1115+2_1115+5dup | ENSP00000493996.1:n.1115+2_1115+5dup | |
| ENST00000646031.1:c.579+2_579+5dup | ||
| ENST00000646483.1:c.1086+2_1086+5dup | ENSP00000496185.1:n.1086+2_1086+5dup | |
| ENST00000380649.7:c.1220+2_1220+5dup | ENSP00000370023.3:n.1220+2_1220+5dup | |
| NM_000182.4:c.1220+2_1220+5dup | NP_000173.2:n.1220+2_1220+5dup | |
| NM_000182.5:c.1220+2_1220+5dup MANE Select | NP_000173.2:n.1220+2_1220+5dup |