Linked Data
ClinVar Variation Id:
1679656
ClinVar RCV Id:
RCV002227680
dbSNP Id:
rs768019203
ExAC:
2:85780536 C / CG
gnomAD v2:
2-85780536-C-CG
gnomAD v4:
2-85553413-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553418dup , CM000664.2:g.85553418dup | GRCh38 |
| NC_000002.11:g.85780541dup , CM000664.1:g.85780541dup | GRCh37 |
| NC_000002.10:g.85634052dup | NCBI36 |
| NG_011811.2:g.13121dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5017dup | ||
| ENST00000482662.2:n.3424dup | ||
| ENST00000685865.1:n.1376dup | ||
| ENST00000687250.1:n.1076dup | ||
| ENST00000687995.1:n.1325dup | ||
| ENST00000688205.1:c.*566dup | ENSP00000509673.1:n.*566dup | |
| ENST00000688788.1:n.1212dup | ||
| ENST00000689276.1:c.904dup | ENSP00000510012.1:p.Arg302ProfsTer22 | |
| ENST00000689576.1:c.973dup | ENSP00000508712.1:p.Arg325ProfsTer22 | |
| ENST00000690108.1:c.*629dup | ENSP00000510617.1:n.*629dup | |
| ENST00000690468.1:c.694dup | ENSP00000509078.1:p.Arg232ProfsTer22 | |
| ENST00000690595.1:c.298dup | ENSP00000508979.1:p.Arg100ProfsTer22 | |
| ENST00000691348.1:c.802dup | ENSP00000509369.1:p.Arg268ProfsTer22 | |
| ENST00000691410.1:c.*550dup | ENSP00000508479.1:n.*550dup | |
| ENST00000693287.1:c.289dup | ENSP00000510264.1:p.Arg97ProfsTer22 | |
| ENST00000693681.1:c.286dup | ENSP00000510789.1:p.Arg96ProfsTer22 | |
| ENST00000233838.9:c.973dup MANE Select | ENSP00000233838.3:p.Arg325ProfsTer22 | |
| ENST00000233838.8:c.973dup | ENSP00000233838.3:p.Arg325ProfsTer22 | |
| ENST00000430215.7:c.802dup | ENSP00000408045.3:p.Arg268ProfsTer22 | |
| ENST00000465637.5:n.179-5410dup | ||
| ENST00000473665.1:n.466dup | ||
| ENST00000482662.1:n.390dup | ||
| NM_000821.5:c.973dup | NP_000812.2:p.Arg325ProfsTer22 | |
| NM_000821.6:c.973dup | NP_000812.2:p.Arg325ProfsTer22 | |
| NM_001142269.2:c.802dup | NP_001135741.1:p.Arg268ProfsTer22 | |
| NM_001142269.3:c.802dup | NP_001135741.1:p.Arg268ProfsTer22 | |
| XM_005264259.3:c.973dup | XP_005264316.1:p.Arg325ProfsTer22 | |
| XM_011532764.1:c.151dup | XP_011531066.1:p.Arg51ProfsTer22 | |
| XM_011532765.1:c.151dup | XP_011531067.1:p.Arg51ProfsTer22 | |
| XR_939677.1:n.1038dup | ||
| XM_005264259.5:c.973dup | XP_005264316.1:p.Arg325ProfsTer22 | |
| XM_011532764.3:c.151dup | XP_011531066.1:p.Arg51ProfsTer22 | |
| XM_011532765.3:c.151dup | XP_011531067.1:p.Arg51ProfsTer22 | |
| XM_017003803.2:c.802dup | XP_016859292.1:p.Arg268ProfsTer22 | |
| XR_001738703.2:n.1038dup | ||
| NM_000821.7:c.973dup MANE Select | NP_000812.2:p.Arg325ProfsTer22 | |
| NM_001142269.4:c.802dup | NP_001135741.1:p.Arg268ProfsTer22 |