Linked Data
MyVariant Identifiers:
chr2:g.189915307T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050581T>A , CM000664.2:g.189050581T>A | GRCh38 |
| NC_000002.11:g.189915307T>A , CM000664.1:g.189915307T>A | GRCh37 |
| NC_000002.10:g.189623552T>A | NCBI36 |
| NG_011799.1:g.134299A>T | |
| NG_011799.2:g.134299A>T | |
| NG_011799.3:g.179721A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3027A>T MANE Select | ENSP00000364000.3:p.Leu1009= | |
| ENST00000374866.7:c.3027A>T | ENSP00000364000.3:p.Leu1009= | |
| ENST00000618828.1:c.1866A>T | ENSP00000482184.1:p.Leu622= | |
| NM_000393.3:c.3027A>T | NP_000384.2:p.Leu1009= | |
| XM_011510573.1:c.2889A>T | XP_011508875.1:p.Leu963= | |
| NM_000393.4:c.3027A>T | NP_000384.2:p.Leu1009= | |
| XM_011510573.3:c.2889A>T | XP_011508875.1:p.Leu963= | |
| NM_000393.5:c.3027A>T MANE Select | NP_000384.2:p.Leu1009= |