Linked Data
ClinVar Variation Id:
2814796
ClinVar RCV Id:
RCV003612701
MyVariant Identifiers:
chr2:g.219677444G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812721G>C , CM000664.2:g.218812721G>C | GRCh38 |
| NC_000002.11:g.219677444G>C , CM000664.1:g.219677444G>C | GRCh37 |
| NC_000002.10:g.219385688G>C | NCBI36 |
| NG_007959.1:g.35973G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.816G>C MANE Select | ENSP00000258415.4:p.Leu272= | |
| ENST00000258415.8:c.816G>C | ENSP00000258415.4:p.Leu272= | |
| ENST00000411688.1:c.534G>C | ENSP00000392671.1:p.Leu178= | |
| ENST00000445971.1:c.*277G>C | ENSP00000404945.1:n.*277G>C | |
| ENST00000466602.1:n.764G>C | ||
| ENST00000494263.5:n.1250G>C | ||
| NM_000784.3:c.816G>C | NP_000775.1:p.Leu272= | |
| XM_017003488.2:c.396G>C | XP_016858977.1:p.Leu132= | |
| NM_000784.4:c.816G>C MANE Select | NP_000775.1:p.Leu272= |