Linked Data
ClinVar Variation Id:
2123850
ClinVar RCV Id:
RCV003055284
MyVariant Identifiers:
chr2:g.112705113T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111947536T>A , CM000664.2:g.111947536T>A | GRCh38 |
| NC_000002.11:g.112705113T>A , CM000664.1:g.112705113T>A | GRCh37 |
| NC_000002.10:g.112421584T>A | NCBI36 |
| NG_011607.1:g.53923T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.726T>A MANE Select | ENSP00000295408.4:p.Pro242= | |
| ENST00000295408.8:c.726T>A | ENSP00000295408.4:p.Pro242= | |
| ENST00000409780.5:c.198T>A | ENSP00000387277.1:p.Pro66= | |
| ENST00000421804.6:c.726T>A | ENSP00000389152.2:p.Pro242= | |
| ENST00000439966.5:c.*199T>A | ENSP00000402129.1:n.*199T>A | |
| ENST00000616902.4:c.-490T>A | ENSP00000482824.1:n.-490T>A | |
| NM_006343.2:c.726T>A | NP_006334.2:p.Pro242= | |
| XM_005263565.3:c.726T>A | XP_005263622.1:p.Pro242= | |
| XM_005263568.3:c.726T>A | XP_005263625.1:p.Pro242= | |
| XM_011510490.1:c.537T>A | XP_011508792.1:p.Pro179= | |
| XM_005263565.4:c.726T>A | XP_005263622.1:p.Pro242= | |
| XM_005263568.4:c.726T>A | XP_005263625.1:p.Pro242= | |
| XM_011510490.3:c.537T>A | XP_011508792.1:p.Pro179= | |
| XM_017003164.1:c.537T>A | XP_016858653.1:p.Pro179= | |
| XM_017003165.2:c.-542T>A | XP_016858654.1:n.-542T>A | |
| NM_006343.3:c.726T>A MANE Select | NP_006334.2:p.Pro242= |