Linked Data
ClinVar Variation Id:
2074981
ClinVar RCV Id:
RCV002963191
MyVariant Identifiers:
chr2:g.169801175G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944665G>C , CM000664.2:g.168944665G>C | GRCh38 |
| NC_000002.11:g.169801175G>C , CM000664.1:g.169801175G>C | GRCh37 |
| NC_000002.10:g.169509421G>C | NCBI36 |
| NG_007374.1:g.91659C>G | |
| NG_007374.2:g.91732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.867C>G | ENSP00000497165.1:p.Leu289= | |
| ENST00000650372.1:c.2550C>G MANE Select | ENSP00000497931.1:p.Leu850= | |
| ENST00000263817.6:c.2550C>G | ENSP00000263817.6:p.Leu850= | |
| ENST00000439188.1:c.1239C>G | ENSP00000416058.1:n.1239C>G | |
| NM_003742.2:c.2550C>G | NP_003733.2:p.Leu850= | |
| XM_006712817.2:c.2592C>G | XP_006712880.1:p.Leu864= | |
| XM_011512077.1:c.2652C>G | XP_011510379.1:p.Leu884= | |
| XM_011512078.1:c.2652C>G | XP_011510380.1:p.Leu884= | |
| XM_011512079.1:c.2652C>G | XP_011510381.1:p.Leu884= | |
| XM_011512080.1:c.2652C>G | XP_011510382.1:p.Leu884= | |
| XM_011512081.1:c.876C>G | XP_011510383.1:p.Leu292= | |
| NM_003742.4:c.2550C>G MANE Select | NP_003733.2:p.Leu850= | |
| XM_006712817.3:c.2592C>G | XP_006712880.1:p.Leu864= | |
| XM_011512077.2:c.2652C>G | XP_011510379.1:p.Leu884= | |
| XM_011512078.2:c.2652C>G | XP_011510380.1:p.Leu884= | |
| XM_011512080.2:c.2652C>G | XP_011510382.1:p.Leu884= | |
| XM_011512081.2:c.876C>G | XP_011510383.1:p.Leu292= | |
| XM_017005165.1:c.2652C>G | XP_016860654.1:p.Leu884= | |
| XM_017005166.1:c.1881C>G | XP_016860655.1:p.Leu627= | |
| XM_017005167.1:c.1335C>G | XP_016860656.1:p.Leu445= |