Linked Data
ClinVar Variation Id:
2133032
ClinVar RCV Id:
RCV003040735
MyVariant Identifiers:
chr2:g.169801178G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944668G>A , CM000664.2:g.168944668G>A | GRCh38 |
| NC_000002.11:g.169801178G>A , CM000664.1:g.169801178G>A | GRCh37 |
| NC_000002.10:g.169509424G>A | NCBI36 |
| NG_007374.1:g.91656C>T | |
| NG_007374.2:g.91729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.864C>T | ENSP00000497165.1:p.Asp288= | |
| ENST00000650372.1:c.2547C>T MANE Select | ENSP00000497931.1:p.Asp849= | |
| ENST00000263817.6:c.2547C>T | ENSP00000263817.6:p.Asp849= | |
| ENST00000439188.1:c.1236C>T | ENSP00000416058.1:n.1236C>T | |
| NM_003742.2:c.2547C>T | NP_003733.2:p.Asp849= | |
| XM_006712817.2:c.2589C>T | XP_006712880.1:p.Asp863= | |
| XM_011512077.1:c.2649C>T | XP_011510379.1:p.Asp883= | |
| XM_011512078.1:c.2649C>T | XP_011510380.1:p.Asp883= | |
| XM_011512079.1:c.2649C>T | XP_011510381.1:p.Asp883= | |
| XM_011512080.1:c.2649C>T | XP_011510382.1:p.Asp883= | |
| XM_011512081.1:c.873C>T | XP_011510383.1:p.Asp291= | |
| NM_003742.4:c.2547C>T MANE Select | NP_003733.2:p.Asp849= | |
| XM_006712817.3:c.2589C>T | XP_006712880.1:p.Asp863= | |
| XM_011512077.2:c.2649C>T | XP_011510379.1:p.Asp883= | |
| XM_011512078.2:c.2649C>T | XP_011510380.1:p.Asp883= | |
| XM_011512080.2:c.2649C>T | XP_011510382.1:p.Asp883= | |
| XM_011512081.2:c.873C>T | XP_011510383.1:p.Asp291= | |
| XM_017005165.1:c.2649C>T | XP_016860654.1:p.Asp883= | |
| XM_017005166.1:c.1878C>T | XP_016860655.1:p.Asp626= | |
| XM_017005167.1:c.1332C>T | XP_016860656.1:p.Asp444= |