Linked Data
dbSNP Id:
rs759177323
ExAC:
18:12337552 AGTG / A
gnomAD v2:
18-12337552-AGTG-A
gnomAD v4:
18-12337553-AGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12337557_12337559del , CM000680.2:g.12337557_12337559del | GRCh38 |
| NC_000018.9:g.12337556_12337558del , CM000680.1:g.12337556_12337558del | GRCh37 |
| NC_000018.8:g.12327556_12327558del | NCBI36 |
| NG_023361.1:g.44721_44723del , LRG_666:g.44721_44723del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*1577-21_*1577-19del (AFG3L2) | ENSP00000508998.1:n.*1577-21_*1577-19del | |
| ENST00000687477.1:n.517-21_517-19del (AFG3L2) | ||
| ENST00000688199.1:c.1843-21_1843-19del (AFG3L2) | ENSP00000510237.1:n.1843-21_1843-19del | |
| ENST00000691179.1:c.1906-21_1906-19del (AFG3L2) | ENSP00000509010.1:n.1906-21_1906-19del | |
| ENST00000691970.1:c.*1358-21_*1358-19del (AFG3L2) | ENSP00000508440.1:n.*1358-21_*1358-19del | |
| ENST00000692497.1:c.*411-21_*411-19del (AFG3L2) | ENSP00000509870.1:n.*411-21_*411-19del | |
| ENST00000692988.1:n.1799-21_1799-19del (AFG3L2) | ||
| ENST00000269143.8:c.1981-21_1981-19del (AFG3L2) MANE Select | ENSP00000269143.2:n.1981-21_1981-19del | |
| ENST00000269143.7:c.1981-21_1981-19del (AFG3L2) | ENSP00000269143.2:n.1981-21_1981-19del | |
| ENST00000586691.1:c.88-6492_88-6490del (TUBB6) | ||
| NM_006796.2:c.1981-21_1981-19del , LRG_666t1:c.1981-21_1981-19del (AFG3L2) | NP_006787.2:n.1981-21_1981-19del | |
| XM_011525601.1:c.1780-21_1780-19del (AFG3L2) | XP_011523903.1:n.1780-21_1780-19del | |
| XM_011525601.3:c.1780-21_1780-19del (AFG3L2) | XP_011523903.1:n.1780-21_1780-19del | |
| XR_002958227.1:n.451+655_451+657del | ||
| NM_006796.3:c.1981-21_1981-19del (AFG3L2) MANE Select | NP_006787.2:n.1981-21_1981-19del |