Linked Data
dbSNP Id:
rs562833216
ExAC:
18:12337292 CT / C
gnomAD v2:
18-12337292-CT-C
gnomAD v3:
18-12337293-CT-C
gnomAD v4:
18-12337293-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337301del , CM000680.2:g.12337301del | GRCh38 |
| NC_000018.9:g.12337300del , CM000680.1:g.12337300del | GRCh37 |
| NC_000018.8:g.12327300del | NCBI36 |
| NG_023361.1:g.44983del , LRG_666:g.44983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1771+47del (AFG3L2) | ENSP00000508998.1:n.*1771+47del | |
| ENST00000687477.1:n.711+47del (AFG3L2) | ||
| ENST00000688199.1:c.2037+47del (AFG3L2) | ENSP00000510237.1:n.2037+47del | |
| ENST00000691179.1:c.2100+47del (AFG3L2) | ENSP00000509010.1:n.2100+47del | |
| ENST00000691970.1:c.*1552+47del (AFG3L2) | ENSP00000508440.1:n.*1552+47del | |
| ENST00000692497.1:c.*605+47del (AFG3L2) | ENSP00000509870.1:n.*605+47del | |
| ENST00000692988.1:n.1993+47del (AFG3L2) | ||
| ENST00000269143.8:c.2175+47del (AFG3L2) MANE Select | ENSP00000269143.2:n.2175+47del | |
| ENST00000269143.7:c.2175+47del (AFG3L2) | ENSP00000269143.2:n.2175+47del | |
| ENST00000586691.1:c.88-6748del (TUBB6) | ||
| NM_006796.2:c.2175+47del , LRG_666t1:c.2175+47del (AFG3L2) | NP_006787.2:n.2175+47del | |
| XM_011525601.1:c.1974+47del (AFG3L2) | XP_011523903.1:n.1974+47del | |
| XM_011525601.3:c.1974+47del (AFG3L2) | XP_011523903.1:n.1974+47del | |
| XR_002958227.1:n.451+399del | ||
| NM_006796.3:c.2175+47del (AFG3L2) MANE Select | NP_006787.2:n.2175+47del |