Linked Data
ClinVar Variation Id:
2827211
ClinVar RCV Id:
RCV003612892
MyVariant Identifiers:
chr2:g.219678752C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814029C>T , CM000664.2:g.218814029C>T | GRCh38 |
| NC_000002.11:g.219678752C>T , CM000664.1:g.219678752C>T | GRCh37 |
| NC_000002.10:g.219386996C>T | NCBI36 |
| NG_007959.1:g.37281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1026C>T MANE Select | ENSP00000258415.4:p.Asn342= | |
| ENST00000258415.8:c.1026C>T | ENSP00000258415.4:p.Asn342= | |
| ENST00000445971.1:c.*487C>T | ENSP00000404945.1:n.*487C>T | |
| ENST00000466602.1:n.1148C>T | ||
| ENST00000494263.5:n.1460C>T | ||
| NM_000784.3:c.1026C>T | NP_000775.1:p.Asn342= | |
| XM_017003488.2:c.606C>T | XP_016858977.1:p.Asn202= | |
| NM_000784.4:c.1026C>T MANE Select | NP_000775.1:p.Asn342= |