Linked Data
ClinVar Variation Id:
2748262
ClinVar RCV Id:
RCV003565909
dbSNP Id:
rs749120262
ExAC:
2:241814639 TG / T
gnomAD v2:
2-241814639-TG-T
gnomAD v4:
2-240875222-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875225del , CM000664.2:g.240875225del | GRCh38 |
| NC_000002.11:g.241814642del , CM000664.1:g.241814642del | GRCh37 |
| NC_000002.10:g.241463315del | NCBI36 |
| NG_008005.1:g.11481del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.776+21del MANE Select | ENSP00000302620.3:n.776+21del | |
| ENST00000307503.3:c.776+21del | ENSP00000302620.3:n.776+21del | |
| ENST00000476698.1:n.428+21del | ||
| NM_000030.2:c.776+21del | NP_000021.1:n.776+21del | |
| NM_000030.3:c.776+21del MANE Select | NP_000021.1:n.776+21del |