Linked Data
dbSNP Id:
rs1943757089
gnomAD v4:
2-218814183-C-T
MyVariant Identifiers:
chr2:g.219678906C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814183C>T , CM000664.2:g.218814183C>T | GRCh38 |
| NC_000002.11:g.219678906C>T , CM000664.1:g.219678906C>T | GRCh37 |
| NC_000002.10:g.219387150C>T | NCBI36 |
| NG_007959.1:g.37435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1180C>T MANE Select | ENSP00000258415.4:p.Leu394= | |
| ENST00000258415.8:c.1180C>T | ENSP00000258415.4:p.Leu394= | |
| ENST00000494263.5:n.1614C>T | ||
| NM_000784.3:c.1180C>T | NP_000775.1:p.Leu394= | |
| XM_017003488.2:c.760C>T | XP_016858977.1:p.Leu254= | |
| NM_000784.4:c.1180C>T MANE Select | NP_000775.1:p.Leu394= |