Linked Data
MyVariant Identifiers:
chr2:g.219925136C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060414C>G , CM000664.2:g.219060414C>G | GRCh38 |
| NC_000002.11:g.219925136C>G , CM000664.1:g.219925136C>G | GRCh37 |
| NC_000002.10:g.219633380C>G | NCBI36 |
| NG_016741.1:g.5103G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.54G>C MANE Select | ENSP00000295731.5:p.Leu18= | |
| ENST00000295731.6:c.54G>C | ENSP00000295731.5:p.Leu18= | |
| NM_002181.3:c.54G>C | NP_002172.2:p.Leu18= | |
| NM_002181.4:c.54G>C MANE Select | NP_002172.2:p.Leu18= |