Canonical Allele Identifier: CA2285199000
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337549_12337566delinsAATTAGTGGTGATTACAT , CM000680.2:g.12337549_12337566delinsAATTAGTGGTGATTACAT GRCh38
NC_000018.9:g.12337548_12337565delinsAATTAGTGGTGATTACAT , CM000680.1:g.12337548_12337565delinsAATTAGTGGTGATTACAT GRCh37
NC_000018.8:g.12327548_12327565delinsAATTAGTGGTGATTACAT NCBI36
NG_023361.1:g.44711_44728delinsATGTAATCACCACTAATT , LRG_666:g.44711_44728delinsATGTAATCACCACTAATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1577-31_*1577-14delinsATGTAATCACCACTAATT (AFG3L2) ENSP00000508998.1:n.*1577-31_*1577-14delinsATGTAATCACCACTAATT...
ENST00000687477.1:n.517-31_517-14delinsATGTAATCACCACTAATT (AFG3L2)
ENST00000688199.1:c.1843-31_1843-14delinsATGTAATCACCACTAATT (AFG3L2) ENSP00000510237.1:n.1843-31_1843-14delinsATGTAATCACCACTAATT
ENST00000691179.1:c.1906-31_1906-14delinsATGTAATCACCACTAATT (AFG3L2) ENSP00000509010.1:n.1906-31_1906-14delinsATGTAATCACCACTAATT
ENST00000691970.1:c.*1358-31_*1358-14delinsATGTAATCACCACTAATT (AFG3L2) ENSP00000508440.1:n.*1358-31_*1358-14delinsATGTAATCACCACTAATT...
ENST00000692497.1:c.*411-31_*411-14delinsATGTAATCACCACTAATT (AFG3L2) ENSP00000509870.1:n.*411-31_*411-14delinsATGTAATCACCACTAATT
ENST00000692988.1:n.1799-31_1799-14delinsATGTAATCACCACTAATT (AFG3L2)
ENST00000269143.8:c.1981-31_1981-14delinsATGTAATCACCACTAATT (AFG3L2) MANE Select ENSP00000269143.2:n.1981-31_1981-14delinsATGTAATCACCACTAATT
ENST00000269143.7:c.1981-31_1981-14delinsATGTAATCACCACTAATT (AFG3L2) ENSP00000269143.2:n.1981-31_1981-14delinsATGTAATCACCACTAATT
ENST00000586691.1:c.88-6500_88-6483delinsAATTAGTGGTGATTACAT (TUBB6)
NM_006796.2:c.1981-31_1981-14delinsATGTAATCACCACTAATT , LRG_666t1:c.1981-31_1981-14delinsATGTAATCACCACTAATT (AFG3L2) NP_006787.2:n.1981-31_1981-14delinsATGTAATCACCACTAATT
XM_011525601.1:c.1780-31_1780-14delinsATGTAATCACCACTAATT (AFG3L2) XP_011523903.1:n.1780-31_1780-14delinsATGTAATCACCACTAATT
XM_011525601.3:c.1780-31_1780-14delinsATGTAATCACCACTAATT (AFG3L2) XP_011523903.1:n.1780-31_1780-14delinsATGTAATCACCACTAATT
XR_002958227.1:n.451+647_451+664delinsAATTAGTGGTGATTACAT
NM_006796.3:c.1981-31_1981-14delinsATGTAATCACCACTAATT (AFG3L2) MANE Select NP_006787.2:n.1981-31_1981-14delinsATGTAATCACCACTAATT