Linked Data
ClinVar Variation Id:
2745883
ClinVar RCV Id:
RCV003568260
dbSNP Id:
rs1245586204
gnomAD v2:
18-12337358-CTT-C
gnomAD v3:
18-12337359-CTT-C
gnomAD v4:
18-12337359-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337362_12337363del , CM000680.2:g.12337362_12337363del | GRCh38 |
| NC_000018.9:g.12337361_12337362del , CM000680.1:g.12337361_12337362del | GRCh37 |
| NC_000018.8:g.12327361_12327362del | NCBI36 |
| NG_023361.1:g.44916_44917del , LRG_666:g.44916_44917del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1751_*1752del (AFG3L2) | ENSP00000508998.1:n.*1751_*1752del | |
| ENST00000687477.1:n.691_692del (AFG3L2) | ||
| ENST00000688199.1:c.2017_2018del (AFG3L2) | ENSP00000510237.1:p.Lys673GlufsTer3 | |
| ENST00000691179.1:c.2080_2081del (AFG3L2) | ENSP00000509010.1:p.Lys694GlufsTer3 | |
| ENST00000691970.1:c.*1532_*1533del (AFG3L2) | ENSP00000508440.1:n.*1532_*1533del | |
| ENST00000692497.1:c.*585_*586del (AFG3L2) | ENSP00000509870.1:n.*585_*586del | |
| ENST00000692988.1:n.1973_1974del (AFG3L2) | ||
| ENST00000269143.8:c.2155_2156del (AFG3L2) MANE Select | ENSP00000269143.2:p.Lys719GlufsTer3 | |
| ENST00000269143.7:c.2155_2156del (AFG3L2) | ENSP00000269143.2:p.Lys719GlufsTer3 | |
| ENST00000586691.1:c.88-6687_88-6686del (TUBB6) | ||
| NM_006796.2:c.2155_2156del , LRG_666t1:c.2155_2156del (AFG3L2) | NP_006787.2:p.Lys719GlufsTer3 | |
| XM_011525601.1:c.1954_1955del (AFG3L2) | XP_011523903.1:p.Lys652GlufsTer3 | |
| XM_011525601.3:c.1954_1955del (AFG3L2) | XP_011523903.1:p.Lys652GlufsTer3 | |
| XR_002958227.1:n.451+460_451+461del | ||
| NM_006796.3:c.2155_2156del (AFG3L2) MANE Select | NP_006787.2:p.Lys719GlufsTer3 |