Canonical Allele Identifier: CA2285199068
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337276C= , CM000680.2:g.12337276C= GRCh38
NC_000018.9:g.12337275C= , CM000680.1:g.12337275C= GRCh37
NC_000018.8:g.12327275C= NCBI36
NG_023361.1:g.45001G= , LRG_666:g.45001G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1771+65G= (AFG3L2) ENSP00000508998.1:n.*1771+65G=
ENST00000687477.1:n.711+65G= (AFG3L2)
ENST00000688199.1:c.2037+65G= (AFG3L2) ENSP00000510237.1:n.2037+65G=
ENST00000691179.1:c.2100+65G= (AFG3L2) ENSP00000509010.1:n.2100+65G=
ENST00000691970.1:c.*1552+65G= (AFG3L2) ENSP00000508440.1:n.*1552+65G=
ENST00000692497.1:c.*605+65G= (AFG3L2) ENSP00000509870.1:n.*605+65G=
ENST00000692988.1:n.1993+65G= (AFG3L2)
ENST00000269143.8:c.2175+65G= (AFG3L2) MANE Select ENSP00000269143.2:n.2175+65G=
ENST00000269143.7:c.2175+65G= (AFG3L2) ENSP00000269143.2:n.2175+65G=
ENST00000586691.1:c.88-6773C= (TUBB6)
NM_006796.2:c.2175+65G= , LRG_666t1:c.2175+65G= (AFG3L2) NP_006787.2:n.2175+65G=
XM_011525601.1:c.1974+65G= (AFG3L2) XP_011523903.1:n.1974+65G=
XM_011525601.3:c.1974+65G= (AFG3L2) XP_011523903.1:n.1974+65G=
XR_002958227.1:n.451+374C=
NM_006796.3:c.2175+65G= (AFG3L2) MANE Select NP_006787.2:n.2175+65G=