Linked Data
MyVariant Identifiers:
chr2:g.84652599A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425475A>C , CM000664.2:g.84425475A>C | GRCh38 |
| NC_000002.11:g.84652599A>C , CM000664.1:g.84652599A>C | GRCh37 |
| NC_000002.10:g.84506110A>C | NCBI36 |
| NG_016755.1:g.38988T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.954T>G MANE Select | ENSP00000377446.2:p.Leu318= | |
| ENST00000651342.1:c.*394T>G | ENSP00000498471.1:n.*394T>G | |
| ENST00000393868.6:c.954T>G | ENSP00000377446.2:p.Leu318= | |
| ENST00000484365.1:n.1462T>G | ||
| ENST00000487809.1:n.701T>G | ||
| ENST00000491123.5:n.800T>G | ||
| NM_003849.3:c.954T>G | NP_003840.2:p.Leu318= | |
| NM_003849.4:c.954T>G MANE Select | NP_003840.2:p.Leu318= |