Linked Data
ClinVar Variation Id:
2790911
ClinVar RCV Id:
RCV003672158
dbSNP Id:
rs754307169
ExAC:
18:12337411 G / A
gnomAD v2:
18-12337411-G-A
gnomAD v4:
18-12337412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337412G>A , CM000680.2:g.12337412G>A | GRCh38 |
| NC_000018.9:g.12337411G>A , CM000680.1:g.12337411G>A | GRCh37 |
| NC_000018.8:g.12327411G>A | NCBI36 |
| NG_023361.1:g.44865C>T , LRG_666:g.44865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1700C>T (AFG3L2) | ENSP00000508998.1:n.*1700C>T | |
| ENST00000687477.1:n.640C>T (AFG3L2) | ||
| ENST00000688199.1:c.1966C>T (AFG3L2) | ENSP00000510237.1:p.Arg656Ter | |
| ENST00000691179.1:c.2029C>T (AFG3L2) | ENSP00000509010.1:p.Arg677Ter | |
| ENST00000691970.1:c.*1481C>T (AFG3L2) | ENSP00000508440.1:n.*1481C>T | |
| ENST00000692497.1:c.*534C>T (AFG3L2) | ENSP00000509870.1:n.*534C>T | |
| ENST00000692988.1:n.1922C>T (AFG3L2) | ||
| ENST00000269143.8:c.2104C>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Arg702Ter | |
| ENST00000269143.7:c.2104C>T (AFG3L2) | ENSP00000269143.2:p.Arg702Ter | |
| ENST00000586691.1:c.88-6637G>A (TUBB6) | ||
| NM_006796.2:c.2104C>T , LRG_666t1:c.2104C>T (AFG3L2) | NP_006787.2:p.Arg702Ter | |
| XM_011525601.1:c.1903C>T (AFG3L2) | XP_011523903.1:p.Arg635Ter | |
| XM_011525601.3:c.1903C>T (AFG3L2) | XP_011523903.1:p.Arg635Ter | |
| XR_002958227.1:n.451+510G>A | ||
| NM_006796.3:c.2104C>T (AFG3L2) MANE Select | NP_006787.2:p.Arg702Ter |