Canonical Allele Identifier: CA2285199100
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337296T= , CM000680.2:g.12337296T= GRCh38
NC_000018.9:g.12337295T= , CM000680.1:g.12337295T= GRCh37
NC_000018.8:g.12327295T= NCBI36
NG_023361.1:g.44981A= , LRG_666:g.44981A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1771+45A= (AFG3L2) ENSP00000508998.1:n.*1771+45A=
ENST00000687477.1:n.711+45A= (AFG3L2)
ENST00000688199.1:c.2037+45A= (AFG3L2) ENSP00000510237.1:n.2037+45A=
ENST00000691179.1:c.2100+45A= (AFG3L2) ENSP00000509010.1:n.2100+45A=
ENST00000691970.1:c.*1552+45A= (AFG3L2) ENSP00000508440.1:n.*1552+45A=
ENST00000692497.1:c.*605+45A= (AFG3L2) ENSP00000509870.1:n.*605+45A=
ENST00000692988.1:n.1993+45A= (AFG3L2)
ENST00000269143.8:c.2175+45A= (AFG3L2) MANE Select ENSP00000269143.2:n.2175+45A=
ENST00000269143.7:c.2175+45A= (AFG3L2) ENSP00000269143.2:n.2175+45A=
ENST00000586691.1:c.88-6753T= (TUBB6)
NM_006796.2:c.2175+45A= , LRG_666t1:c.2175+45A= (AFG3L2) NP_006787.2:n.2175+45A=
XM_011525601.1:c.1974+45A= (AFG3L2) XP_011523903.1:n.1974+45A=
XM_011525601.3:c.1974+45A= (AFG3L2) XP_011523903.1:n.1974+45A=
XR_002958227.1:n.451+394T=
NM_006796.3:c.2175+45A= (AFG3L2) MANE Select NP_006787.2:n.2175+45A=