Linked Data
MyVariant Identifiers:
chr2:g.29551241C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328375C>T , CM000664.2:g.29328375C>T | GRCh38 |
| NC_000002.11:g.29551241C>T , CM000664.1:g.29551241C>T | GRCh37 |
| NC_000002.10:g.29404745C>T | NCBI36 |
| NG_009445.1:g.598192G>A , LRG_488:g.598192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1389G>A MANE Select | ENSP00000373700.3:p.Gln463= | |
| ENST00000389048.7:c.1389G>A | ENSP00000373700.3:p.Gln463= | |
| ENST00000618119.4:c.258G>A | ENSP00000482733.1:p.Gln86= | |
| NM_004304.4:c.1389G>A | NP_004295.2:p.Gln463= | |
| XR_939920.1:n.693-10C>T | ||
| XR_939921.1:n.680+5847C>T | ||
| XR_001738688.2:n.2319G>A | ||
| XR_939920.2:n.583-10C>T | ||
| XR_939921.2:n.576+5847C>T | ||
| NM_004304.5:c.1389G>A MANE Select | NP_004295.2:p.Gln463= |