Linked Data
ClinVar Variation Id:
2443341
ClinVar RCV Id:
RCV003151948
MyVariant Identifiers:
chr2:g.157186374del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156329868del , CM000664.2:g.156329868del | GRCh38 |
| NC_000002.11:g.157186380del , CM000664.1:g.157186380del | GRCh37 |
| NC_000002.10:g.156894626del | NCBI36 |
| NG_011821.1:g.7914del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421709.2:c.136del | ENSP00000388120.2:p.Gln46SerfsTer5 | |
| ENST00000700228.1:c.196del | ENSP00000514865.1:p.Gln66SerfsTer5 | |
| ENST00000700231.1:c.325del | ENSP00000514868.1:p.Gln109SerfsTer5 | |
| ENST00000339562.9:c.325del MANE Select | ENSP00000344479.4:p.Gln109SerfsTer5 | |
| ENST00000675870.1:c.136del | ENSP00000502739.1:p.Gln46SerfsTer5 | |
| ENST00000339562.8:c.325del | ENSP00000344479.4:p.Gln109SerfsTer5 | |
| ENST00000406048.2:c.208+52del | ||
| ENST00000409108.6:c.325del | ENSP00000386993.2:p.Gln109SerfsTer5 | |
| ENST00000409572.5:c.325del | ENSP00000386747.1:p.Gln109SerfsTer5 | |
| ENST00000417764.5:c.136del | ENSP00000415632.1:p.Gln46SerfsTer5 | |
| ENST00000417972.5:c.136del | ENSP00000394671.1:p.Gln46SerfsTer5 | |
| ENST00000421709.1:c.136del | ENSP00000388120.1:p.Gln46SerfsTer5 | |
| ENST00000424077.1:c.325del | ENSP00000406808.1:p.Gln109SerfsTer5 | |
| ENST00000426264.5:c.136del | ENSP00000389986.1:p.Gln46SerfsTer5 | |
| ENST00000429376.5:c.136del | ENSP00000410952.1:p.Gln46SerfsTer5 | |
| NM_006186.3:c.325del | NP_006177.1:p.Gln109SerfsTer5 | |
| XM_005246621.2:c.358del | XP_005246678.1:p.Gln120SerfsTer5 | |
| XM_005246622.2:c.136del | XP_005246679.1:p.Gln46SerfsTer5 | |
| XM_005246623.1:c.136del | XP_005246680.1:p.Gln46SerfsTer5 | |
| XM_006712553.2:c.358del | XP_006712616.1:p.Gln120SerfsTer5 | |
| XM_011511246.1:c.358del | XP_011509548.1:p.Gln120SerfsTer5 | |
| XR_427087.2:n.2531del | ||
| NM_173173.2:c.136del | NP_775265.1:p.Gln46SerfsTer5 | |
| XM_005246621.4:c.358del | XP_005246678.1:p.Gln120SerfsTer5 | |
| XM_006712553.4:c.358del | XP_006712616.1:p.Gln120SerfsTer5 | |
| XM_011511246.2:c.358del | XP_011509548.1:p.Gln120SerfsTer5 | |
| XM_017004219.2:c.325del | XP_016859708.1:p.Gln109SerfsTer5 | |
| XM_017004220.2:c.325del | XP_016859709.1:p.Gln109SerfsTer5 | |
| XR_001738751.2:n.693del | ||
| XR_001738752.2:n.515del | ||
| XR_427087.4:n.572del | ||
| NM_006186.4:c.325del MANE Select | NP_006177.1:p.Gln109SerfsTer5 | |
| NM_173173.3:c.136del | NP_775265.1:p.Gln46SerfsTer5 |