Linked Data
ClinVar Variation Id:
1732829
ClinVar RCV Id:
RCV002455038
dbSNP Id:
rs1553393901
MyVariant Identifiers:
chr2:g.29443641C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220775C>T , CM000664.2:g.29220775C>T | GRCh38 |
| NC_000002.11:g.29443641C>T , CM000664.1:g.29443641C>T | GRCh37 |
| NC_000002.10:g.29297145C>T | NCBI36 |
| NG_009445.1:g.705792G>A , LRG_488:g.705792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3576G>A MANE Select | ENSP00000373700.3:p.Arg1192= | |
| ENST00000431873.6:c.803G>A | ||
| ENST00000638605.1:n.453G>A | ||
| ENST00000642122.1:c.372G>A | ENSP00000493203.1:p.Arg124= | |
| ENST00000389048.7:c.3576G>A | ENSP00000373700.3:p.Arg1192= | |
| ENST00000431873.5:c.456G>A | ENSP00000414027.2:p.Arg152= | |
| ENST00000618119.4:c.2445G>A | ENSP00000482733.1:p.Arg815= | |
| NM_004304.4:c.3576G>A | NP_004295.2:p.Arg1192= | |
| NM_001353765.1:c.372G>A | NP_001340694.1:p.Arg124= | |
| XM_024452778.1:c.729G>A | XP_024308546.1:p.Arg243= | |
| XM_024452779.1:c.372G>A | XP_024308547.1:p.Arg124= | |
| NM_004304.5:c.3576G>A MANE Select | NP_004295.2:p.Arg1192= | |
| NM_001353765.2:c.372G>A | NP_001340694.1:p.Arg124= |