Linked Data
MyVariant Identifiers:
chr2:g.71351477A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124347A>C , CM000664.2:g.71124347A>C | GRCh38 |
| NC_000002.11:g.71351477A>C , CM000664.1:g.71351477A>C | GRCh37 |
| NC_000002.10:g.71204985A>C | NCBI36 |
| NG_008977.1:g.10918T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.237T>G MANE Select | ENSP00000244217.5:p.Leu79= | |
| ENST00000244217.5:c.237T>G | ENSP00000244217.5:p.Leu79= | |
| ENST00000413592.5:c.84+21T>G | ENSP00000391140.1:n.84+21T>G | |
| ENST00000486135.1:c.-49T>G | ENSP00000441569.1:n.-49T>G | |
| ENST00000494660.6:c.-49T>G | ENSP00000437361.1:n.-49T>G | |
| NM_032601.3:c.237T>G | NP_115990.3:p.Leu79= | |
| XM_005264613.2:c.216+21T>G | XP_005264670.1:n.216+21T>G | |
| XR_939729.1:n.306T>G | ||
| XR_939729.2:n.306T>G | ||
| NM_032601.4:c.237T>G MANE Select | NP_115990.3:p.Leu79= |