Linked Data
MyVariant Identifiers:
chr2:g.189927597G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062871G>C , CM000664.2:g.189062871G>C | GRCh38 |
| NC_000002.11:g.189927597G>C , CM000664.1:g.189927597G>C | GRCh37 |
| NC_000002.10:g.189635842G>C | NCBI36 |
| NG_011799.1:g.122009C>G | |
| NG_011799.2:g.122009C>G | |
| NG_011799.3:g.167431C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1971C>G MANE Select | ENSP00000364000.3:p.Gly657= | |
| ENST00000374866.7:c.1971C>G | ENSP00000364000.3:p.Gly657= | |
| ENST00000470524.2:n.77C>G | ||
| ENST00000618828.1:c.810C>G | ENSP00000482184.1:p.Gly270= | |
| NM_000393.3:c.1971C>G | NP_000384.2:p.Gly657= | |
| XM_011510573.1:c.1833C>G | XP_011508875.1:p.Gly611= | |
| NM_000393.4:c.1971C>G | NP_000384.2:p.Gly657= | |
| XM_011510573.3:c.1833C>G | XP_011508875.1:p.Gly611= | |
| NM_000393.5:c.1971C>G MANE Select | NP_000384.2:p.Gly657= |