Linked Data
ClinVar Variation Id:
2416667
ClinVar RCV Id:
RCV003108918
dbSNP Id:
rs746302967
ExAC:
18:12344140 C / A
gnomAD v2:
18-12344140-C-A
gnomAD v4:
18-12344141-C-A
COSMIC:
COSM6307270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12344141C>A , CM000680.2:g.12344141C>A | GRCh38 |
| NC_000018.9:g.12344140C>A , CM000680.1:g.12344140C>A | GRCh37 |
| NC_000018.8:g.12334140C>A | NCBI36 |
| NG_023361.1:g.38136G>T , LRG_666:g.38136G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683671.1:n.256G>T (AFG3L2) | ||
| ENST00000687337.1:c.*1366G>T (AFG3L2) | ENSP00000508998.1:n.*1366G>T | |
| ENST00000688199.1:c.1632G>T (AFG3L2) | ENSP00000510237.1:p.Pro544= | |
| ENST00000691179.1:c.1695G>T (AFG3L2) | ENSP00000509010.1:p.Pro565= | |
| ENST00000691970.1:c.*1147G>T (AFG3L2) | ENSP00000508440.1:n.*1147G>T | |
| ENST00000692497.1:c.*200G>T (AFG3L2) | ENSP00000509870.1:n.*200G>T | |
| ENST00000692988.1:n.1588G>T (AFG3L2) | ||
| ENST00000269143.8:c.1770G>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Pro590= | |
| ENST00000269143.7:c.1770G>T (AFG3L2) | ENSP00000269143.2:p.Pro590= | |
| ENST00000586691.1:c.180C>A (TUBB6) | ||
| ENST00000588893.1:n.163G>T (AFG3L2) | ||
| NM_006796.2:c.1770G>T , LRG_666t1:c.1770G>T (AFG3L2) | NP_006787.2:p.Pro590= | |
| XM_011525601.1:c.1770G>T (AFG3L2) | XP_011523903.1:p.Pro590= | |
| XM_011525601.3:c.1770G>T (AFG3L2) | XP_011523903.1:p.Pro590= | |
| XR_001753363.1:n.508C>A | ||
| XR_002958227.1:n.544C>A | ||
| NM_006796.3:c.1770G>T (AFG3L2) MANE Select | NP_006787.2:p.Pro590= |