Linked Data
gnomAD v4:
2-15945548-G-A
COSMIC:
COSM1400349
MyVariant Identifiers:
chr2:g.16085670G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945548G>A , CM000664.2:g.15945548G>A | GRCh38 |
| NC_000002.11:g.16085670G>A , CM000664.1:g.16085670G>A | GRCh37 |
| NC_000002.10:g.16003121G>A | NCBI36 |
| NG_007457.1:g.9988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.195G>A | ||
| ENST00000281043.4:c.846G>A MANE Select | ENSP00000281043.3:p.Val282= | |
| ENST00000638417.1:c.213G>A | ENSP00000491476.1:p.Val71= | |
| ENST00000281043.3:c.846G>A | ENSP00000281043.3:p.Val282= | |
| NM_001293228.1:c.846G>A | NP_001280157.1:p.Val282= | |
| NM_001293231.1:c.213G>A | NP_001280160.1:p.Val71= | |
| NM_001293233.1:c.*781G>A | NP_001280162.1:n.*781G>A | |
| NM_005378.5:c.846G>A | NP_005369.2:p.Val282= | |
| NM_005378.6:c.846G>A MANE Select | NP_005369.2:p.Val282= | |
| NM_001293228.2:c.846G>A | NP_001280157.1:p.Val282= | |
| NM_001293231.2:c.213G>A | NP_001280160.1:p.Val71= | |
| NM_001293233.2:c.*781G>A | NP_001280162.1:n.*781G>A |