Canonical Allele Identifier: CA2285199078
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337283T= , CM000680.2:g.12337283T= GRCh38
NC_000018.9:g.12337282T= , CM000680.1:g.12337282T= GRCh37
NC_000018.8:g.12327282T= NCBI36
NG_023361.1:g.44994A= , LRG_666:g.44994A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1771+58A= (AFG3L2) ENSP00000508998.1:n.*1771+58A=
ENST00000687477.1:n.711+58A= (AFG3L2)
ENST00000688199.1:c.2037+58A= (AFG3L2) ENSP00000510237.1:n.2037+58A=
ENST00000691179.1:c.2100+58A= (AFG3L2) ENSP00000509010.1:n.2100+58A=
ENST00000691970.1:c.*1552+58A= (AFG3L2) ENSP00000508440.1:n.*1552+58A=
ENST00000692497.1:c.*605+58A= (AFG3L2) ENSP00000509870.1:n.*605+58A=
ENST00000692988.1:n.1993+58A= (AFG3L2)
ENST00000269143.8:c.2175+58A= (AFG3L2) MANE Select ENSP00000269143.2:n.2175+58A=
ENST00000269143.7:c.2175+58A= (AFG3L2) ENSP00000269143.2:n.2175+58A=
ENST00000586691.1:c.88-6766T= (TUBB6)
NM_006796.2:c.2175+58A= , LRG_666t1:c.2175+58A= (AFG3L2) NP_006787.2:n.2175+58A=
XM_011525601.1:c.1974+58A= (AFG3L2) XP_011523903.1:n.1974+58A=
XM_011525601.3:c.1974+58A= (AFG3L2) XP_011523903.1:n.1974+58A=
XR_002958227.1:n.451+381T=
NM_006796.3:c.2175+58A= (AFG3L2) MANE Select NP_006787.2:n.2175+58A=