Linked Data
ClinVar Variation Id:
1532615
ClinVar RCV Id:
RCV002085114
dbSNP Id:
rs1320090019
MyVariant Identifiers:
chr2:g.73828491G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601364G>A , CM000664.2:g.73601364G>A | GRCh38 |
| NC_000002.11:g.73828491G>A , CM000664.1:g.73828491G>A | GRCh37 |
| NC_000002.10:g.73681999G>A | NCBI36 |
| NG_011690.1:g.220612G>A , LRG_741:g.220612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11661G>A | ENSP00000507671.1:p.Arg3887= | |
| ENST00000682801.1:c.11167-821G>A | ENSP00000507862.1:n.11167-821G>A | |
| ENST00000682859.1:c.11661G>A | ENSP00000508222.1:p.Arg3887= | |
| ENST00000683791.1:c.4747G>A | ||
| ENST00000684460.1:c.8942G>A | ||
| ENST00000684548.1:c.11661G>A | ENSP00000507421.1:p.Arg3887= | |
| ENST00000684590.1:c.6108G>A | ENSP00000507376.1:p.Arg2036= | |
| ENST00000684656.1:c.9126G>A | ||
| ENST00000613296.6:c.12042G>A MANE Select | ENSP00000482968.1:p.Arg4014= | |
| ENST00000651057.1:c.2196G>A | ENSP00000498504.1:p.Arg732= | |
| ENST00000651434.1:c.3398G>A | ||
| ENST00000651750.1:c.1260+483G>A | ||
| ENST00000652487.1:c.3213G>A | ||
| ENST00000464408.3:n.217G>A | ||
| ENST00000484298.5:c.11916G>A | ENSP00000478155.1:p.Arg3972= | |
| ENST00000613296.4:c.12042G>A | ENSP00000482968.1:p.Arg4014= | |
| ENST00000620466.4:n.5845G>A | ||
| NM_015120.4:c.12045G>A , LRG_741t1:c.12045G>A | NP_055935.4:p.Arg4015= | |
| NM_001378454.1:c.12042G>A MANE Select | NP_001365383.1:p.Arg4014= |