Linked Data
dbSNP Id:
rs759103701
gnomAD v4:
2-15945666-C-A
MyVariant Identifiers:
chr2:g.16085788C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945666C>A , CM000664.2:g.15945666C>A | GRCh38 |
| NC_000002.11:g.16085788C>A , CM000664.1:g.16085788C>A | GRCh37 |
| NC_000002.10:g.16003239C>A | NCBI36 |
| NG_007457.1:g.10106C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.313C>A | ||
| ENST00000281043.4:c.964C>A MANE Select | ENSP00000281043.3:p.Arg322= | |
| ENST00000638417.1:c.331C>A | ENSP00000491476.1:p.Arg111= | |
| ENST00000281043.3:c.964C>A | ENSP00000281043.3:p.Arg322= | |
| NM_001293228.1:c.964C>A | NP_001280157.1:p.Arg322= | |
| NM_001293231.1:c.331C>A | NP_001280160.1:p.Arg111= | |
| NM_001293233.1:c.*899C>A | NP_001280162.1:n.*899C>A | |
| NM_005378.5:c.964C>A | NP_005369.2:p.Arg322= | |
| NM_005378.6:c.964C>A MANE Select | NP_005369.2:p.Arg322= | |
| NM_001293228.2:c.964C>A | NP_001280157.1:p.Arg322= | |
| NM_001293231.2:c.331C>A | NP_001280160.1:p.Arg111= | |
| NM_001293233.2:c.*899C>A | NP_001280162.1:n.*899C>A |