This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21470809T>G , CM000685.2:g.21470809T>G | GRCh38 |
| NC_000023.10:g.21488927T>G , CM000685.1:g.21488927T>G | GRCh37 |
| NC_000023.9:g.21398848T>G | NCBI36 |
| NG_016266.1:g.101392T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279451.9:c.561+2T>G | ENSP00000279451.5:n.561+2T>G | |
| ENST00000379510.5:c.561+2T>G MANE Select | ENSP00000368824.3:n.561+2T>G | |
| ENST00000425654.7:c.561+2T>G | ENSP00000397906.2:n.561+2T>G | |
| ENST00000479158.2:n.414+2T>G | ||
| ENST00000480138.2:n.384T>G | ||
| ENST00000485012.2:n.659+2T>G | ||
| ENST00000543067.6:c.561+2T>G | ENSP00000444633.1:n.561+2T>G | |
| ENST00000642359.1:c.561+2T>G | ENSP00000496709.1:n.561+2T>G | |
| ENST00000642460.1:n.706+2T>G | ||
| ENST00000642501.1:c.-124+2T>G | ENSP00000495189.1:n.-124+2T>G | |
| ENST00000642565.1:n.810+2T>G | ||
| ENST00000643171.1:c.561+2T>G | ENSP00000496186.1:n.561+2T>G | |
| ENST00000643220.1:c.561+2T>G | ENSP00000495012.1:n.561+2T>G | |
| ENST00000643313.1:c.52+30028T>G | ||
| ENST00000643841.1:c.561+2T>G | ENSP00000494416.1:n.561+2T>G | |
| ENST00000644075.1:n.74+2T>G | ||
| ENST00000644095.1:c.561+2T>G | ENSP00000496088.1:n.561+2T>G | |
| ENST00000644295.1:c.561+2T>G | ENSP00000495501.1:n.561+2T>G | |
| ENST00000644585.1:c.561+2T>G | ENSP00000495954.1:n.561+2T>G | |
| ENST00000644789.1:n.3699+2T>G | ||
| ENST00000644798.1:c.561+2T>G | ENSP00000494983.1:n.561+2T>G | |
| ENST00000644832.1:n.1037+2T>G | ||
| ENST00000645038.1:n.1075+2T>G | ||
| ENST00000645074.1:c.561+2T>G | ENSP00000496573.1:n.561+2T>G | |
| ENST00000645245.1:c.561+2T>G | ENSP00000495695.1:n.561+2T>G | |
| ENST00000645791.1:c.561+2T>G | ENSP00000494906.1:n.561+2T>G | |
| ENST00000646697.1:c.577+2T>G | ||
| ENST00000647423.1:n.626+2T>G | ||
| ENST00000647532.1:n.631+2T>G | ||
| ENST00000279451.8:c.561+2T>G | ENSP00000279451.4:n.561+2T>G | |
| ENST00000379510.3:c.561+2T>G | ENSP00000368824.3:n.561+2T>G | |
| ENST00000425654.6:c.561+2T>G | ENSP00000397906.2:n.561+2T>G | |
| ENST00000480138.1:n.310T>G | ||
| ENST00000543067.5:c.561+2T>G | ENSP00000444633.1:n.561+2T>G | |
| NM_001168647.1:c.561+2T>G | NP_001162118.1:n.561+2T>G | |
| NM_001168648.1:c.561+2T>G | NP_001162119.1:n.561+2T>G | |
| NM_001168649.1:c.561+2T>G | NP_001162120.1:n.561+2T>G | |
| NM_014927.3:c.561+2T>G | NP_055742.2:n.561+2T>G | |
| XM_011545471.1:c.561+2T>G | XP_011543773.1:n.561+2T>G | |
| XM_011545472.1:c.561+2T>G | XP_011543774.1:n.561+2T>G | |
| NM_001168647.2:c.561+2T>G | NP_001162118.1:n.561+2T>G | |
| NM_001168648.2:c.561+2T>G | NP_001162119.1:n.561+2T>G | |
| NM_001168649.2:c.561+2T>G | NP_001162120.1:n.561+2T>G | |
| NM_001330770.1:c.561+2T>G | NP_001317699.1:n.561+2T>G | |
| NM_001330771.1:c.561+2T>G | NP_001317700.1:n.561+2T>G | |
| NM_001330772.1:c.561+2T>G | NP_001317701.1:n.561+2T>G | |
| NM_001330773.1:c.561+2T>G | NP_001317702.1:n.561+2T>G | |
| NM_014927.4:c.561+2T>G | NP_055742.2:n.561+2T>G | |
| XM_011545471.3:c.561+2T>G | XP_011543773.1:n.561+2T>G | |
| XM_011545472.3:c.561+2T>G | XP_011543774.1:n.561+2T>G | |
| XM_017029358.2:c.561+2T>G | XP_016884847.1:n.561+2T>G | |
| NM_014927.5:c.561+2T>G MANE Select | NP_055742.2:n.561+2T>G | |
| NM_001168647.3:c.561+2T>G | NP_001162118.1:n.561+2T>G | |
| NM_001168648.3:c.561+2T>G | NP_001162119.1:n.561+2T>G | |
| NM_001168649.3:c.561+2T>G | NP_001162120.1:n.561+2T>G | |
| NM_001330770.2:c.561+2T>G | NP_001317699.1:n.561+2T>G | |
| NM_001330771.2:c.561+2T>G | NP_001317700.1:n.561+2T>G | |
| NM_001330772.2:c.561+2T>G | NP_001317701.1:n.561+2T>G | |
| NM_001330773.2:c.561+2T>G | NP_001317702.1:n.561+2T>G |