Canonical Allele Identifier: CA2285198973
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337522C= , CM000680.2:g.12337522C= GRCh38
NC_000018.9:g.12337521C= , CM000680.1:g.12337521C= GRCh37
NC_000018.8:g.12327521C= NCBI36
NG_023361.1:g.44755G= , LRG_666:g.44755G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1590G= (AFG3L2) ENSP00000508998.1:n.*1590G=
ENST00000687477.1:n.530G= (AFG3L2)
ENST00000688199.1:c.1856G= (AFG3L2) ENSP00000510237.1:p.Gly619=
ENST00000691179.1:c.1919G= (AFG3L2) ENSP00000509010.1:p.Gly640=
ENST00000691970.1:c.*1371G= (AFG3L2) ENSP00000508440.1:n.*1371G=
ENST00000692497.1:c.*424G= (AFG3L2) ENSP00000509870.1:n.*424G=
ENST00000692988.1:n.1812G= (AFG3L2)
ENST00000269143.8:c.1994G= (AFG3L2) MANE Select ENSP00000269143.2:p.Gly665=
ENST00000269143.7:c.1994G= (AFG3L2) ENSP00000269143.2:p.Gly665=
ENST00000586691.1:c.88-6527C= (TUBB6)
NM_006796.2:c.1994G= , LRG_666t1:c.1994G= (AFG3L2) NP_006787.2:p.Gly665=
XM_011525601.1:c.1793G= (AFG3L2) XP_011523903.1:p.Gly598=
XM_011525601.3:c.1793G= (AFG3L2) XP_011523903.1:p.Gly598=
XR_002958227.1:n.451+620C=
NM_006796.3:c.1994G= (AFG3L2) MANE Select NP_006787.2:p.Gly665=