Linked Data
ClinVar Variation Id:
214059
ClinVar RCV Id:
RCV000195472
dbSNP Id:
rs765987297
ExAC:
18:12337446 CTG / C
gnomAD v2:
18-12337446-CTG-C
gnomAD v4:
18-12337447-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337449_12337450del , CM000680.2:g.12337449_12337450del | GRCh38 |
| NC_000018.9:g.12337448_12337449del , CM000680.1:g.12337448_12337449del | GRCh37 |
| NC_000018.8:g.12327448_12327449del | NCBI36 |
| NG_023361.1:g.44828_44829del , LRG_666:g.44828_44829del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687337.1:c.*1663_*1664del (AFG3L2) | ENSP00000508998.1:n.*1663_*1664del | |
| ENST00000687477.1:n.603_604del (AFG3L2) | ||
| ENST00000688199.1:c.1929_1930del (AFG3L2) | ENSP00000510237.1:p.Tyr643Ter | |
| ENST00000691179.1:c.1992_1993del (AFG3L2) | ENSP00000509010.1:p.Tyr664Ter | |
| ENST00000691970.1:c.*1444_*1445del (AFG3L2) | ENSP00000508440.1:n.*1444_*1445del | |
| ENST00000692497.1:c.*497_*498del (AFG3L2) | ENSP00000509870.1:n.*497_*498del | |
| ENST00000692988.1:n.1885_1886del (AFG3L2) | ||
| ENST00000269143.8:c.2067_2068del (AFG3L2) MANE Select | ENSP00000269143.2:p.Tyr689Ter | |
| ENST00000269143.7:c.2067_2068del (AFG3L2) | ENSP00000269143.2:p.Tyr689Ter | |
| ENST00000586691.1:c.88-6600_88-6599del (TUBB6) | ||
| NM_006796.2:c.2067_2068del , LRG_666t1:c.2067_2068del (AFG3L2) | NP_006787.2:p.Tyr689Ter | |
| XM_011525601.1:c.1866_1867del (AFG3L2) | XP_011523903.1:p.Tyr622Ter | |
| XM_011525601.3:c.1866_1867del (AFG3L2) | XP_011523903.1:p.Tyr622Ter | |
| XR_002958227.1:n.451+547_451+548del | ||
| NM_006796.3:c.2067_2068del (AFG3L2) MANE Select | NP_006787.2:p.Tyr689Ter |