Linked Data
ClinVar Variation Id:
3001647
ClinVar RCV Id:
RCV003862710
dbSNP Id:
rs1445010124
gnomAD v2:
2-26703815-G-GCGTGTAGTTA
gnomAD v4:
2-26480947-G-GCGTGTAGTTA
MyVariant Identifiers:
chr2:g.26703815_26703816insCGTGTAGTTA (hg19)
chr2:g.26480947_26480948insCGTGTAGTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26480953_26480962dup , CM000664.2:g.26480953_26480962dup | GRCh38 |
| NC_000002.11:g.26703821_26703830dup , CM000664.1:g.26703821_26703830dup | GRCh37 |
| NC_000002.10:g.26557325_26557334dup | NCBI36 |
| NG_009937.1:g.82742_82751dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1632_1641dup MANE Select | ENSP00000272371.2:p.Leu548Ter | |
| ENST00000272371.6:c.1632_1641dup | ENSP00000272371.2:p.Leu548Ter | |
| ENST00000403946.7:c.1632_1641dup | ENSP00000385255.3:p.Leu548Ter | |
| NM_001287489.1:c.1632_1641dup | NP_001274418.1:p.Leu548Ter | |
| NM_194248.2:c.1632_1641dup | NP_919224.1:p.Leu548Ter | |
| XM_005264644.2:c.1677_1686dup | XP_005264701.1:p.Leu563Ter | |
| XM_011533185.1:c.1677_1686dup | XP_011531487.1:p.Leu563Ter | |
| XM_017005338.1:c.1632_1641dup | XP_016860827.1:p.Leu548Ter | |
| NM_001287489.2:c.1632_1641dup | NP_001274418.1:p.Leu548Ter | |
| NM_194248.3:c.1632_1641dup MANE Select | NP_919224.1:p.Leu548Ter |