Canonical Allele Identifier: CA343036
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Linked Data

ClinVar Variation Id: 38393
dbSNP Id: rs151344522

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337418C>T , CM000680.2:g.12337418C>T GRCh38
NC_000018.9:g.12337417C>T , CM000680.1:g.12337417C>T GRCh37
NC_000018.8:g.12327417C>T NCBI36
NG_023361.1:g.44859G>A , LRG_666:g.44859G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1694G>A (AFG3L2) ENSP00000508998.1:n.*1694G>A
ENST00000687477.1:n.634G>A (AFG3L2)
ENST00000688199.1:c.1960G>A (AFG3L2) ENSP00000510237.1:p.Glu654Lys
ENST00000691179.1:c.2023G>A (AFG3L2) ENSP00000509010.1:p.Glu675Lys
ENST00000691970.1:c.*1475G>A (AFG3L2) ENSP00000508440.1:n.*1475G>A
ENST00000692497.1:c.*528G>A (AFG3L2) ENSP00000509870.1:n.*528G>A
ENST00000692988.1:n.1916G>A (AFG3L2)
ENST00000269143.8:c.2098G>A (AFG3L2) MANE Select ENSP00000269143.2:p.Glu700Lys
ENST00000269143.7:c.2098G>A (AFG3L2) ENSP00000269143.2:p.Glu700Lys
ENST00000586691.1:c.88-6631C>T (TUBB6)
NM_006796.2:c.2098G>A , LRG_666t1:c.2098G>A (AFG3L2) NP_006787.2:p.Glu700Lys
XM_011525601.1:c.1897G>A (AFG3L2) XP_011523903.1:p.Glu633Lys
XM_011525601.3:c.1897G>A (AFG3L2) XP_011523903.1:p.Glu633Lys
XR_002958227.1:n.451+516C>T
NM_006796.3:c.2098G>A (AFG3L2) MANE Select NP_006787.2:p.Glu700Lys