Linked Data
MyVariant Identifiers:
chr2:g.233349190T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484480T>A , CM000664.2:g.232484480T>A | GRCh38 |
| NC_000002.11:g.233349190T>A , CM000664.1:g.233349190T>A | GRCh37 |
| NC_000002.10:g.233057434T>A | NCBI36 |
| NG_034065.1:g.8380A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.1176A>T MANE Select | ENSP00000302051.1:p.Thr392= | |
| ENST00000304546.5:c.1176A>T | ENSP00000302051.1:p.Thr392= | |
| ENST00000409941.1:c.1176A>T | ENSP00000386333.1:p.Thr392= | |
| ENST00000482346.1:n.1487A>T | ||
| NM_001290787.1:c.1176A>T | NP_001277716.1:p.Thr392= | |
| NM_004826.3:c.1176A>T | NP_004817.2:p.Thr392= | |
| NM_004826.4:c.1176A>T MANE Select | NP_004817.2:p.Thr392= | |
| NM_001290787.2:c.1176A>T | NP_001277716.1:p.Thr392= |