Linked Data
ClinVar Variation Id:
2107772
ClinVar RCV Id:
RCV003033808
gnomAD v4:
2-197706158-C-G
MyVariant Identifiers:
chr2:g.198570882C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197706158C>G , CM000664.2:g.197706158C>G | GRCh38 |
| NC_000002.11:g.198570882C>G , CM000664.1:g.198570882C>G | GRCh37 |
| NC_000002.10:g.198279127C>G | NCBI36 |
| NG_034122.1:g.5855C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282276.8:c.753C>G MANE Select | ENSP00000282276.6:p.Pro251= | |
| ENST00000282276.7:c.753C>G | ENSP00000282276.6:p.Pro251= | |
| NM_138395.3:c.753C>G | NP_612404.1:p.Pro251= | |
| NM_138395.4:c.753C>G MANE Select | NP_612404.1:p.Pro251= |