Canonical Allele Identifier: CA340419
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5470
ClinVar RCV Id: RCV000005804
dbSNP Id: rs151344520

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337445C>T , CM000680.2:g.12337445C>T GRCh38
NC_000018.9:g.12337444C>T , CM000680.1:g.12337444C>T GRCh37
NC_000018.8:g.12327444C>T NCBI36
NG_023361.1:g.44832G>A , LRG_666:g.44832G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1667G>A (AFG3L2) ENSP00000508998.1:n.*1667G>A
ENST00000687477.1:n.607G>A (AFG3L2)
ENST00000688199.1:c.1933G>A (AFG3L2) ENSP00000510237.1:p.Glu645Lys
ENST00000691179.1:c.1996G>A (AFG3L2) ENSP00000509010.1:p.Glu666Lys
ENST00000691970.1:c.*1448G>A (AFG3L2) ENSP00000508440.1:n.*1448G>A
ENST00000692497.1:c.*501G>A (AFG3L2) ENSP00000509870.1:n.*501G>A
ENST00000692988.1:n.1889G>A (AFG3L2)
ENST00000269143.8:c.2071G>A (AFG3L2) MANE Select ENSP00000269143.2:p.Glu691Lys
ENST00000269143.7:c.2071G>A (AFG3L2) ENSP00000269143.2:p.Glu691Lys
ENST00000586691.1:c.88-6604C>T (TUBB6)
NM_006796.2:c.2071G>A , LRG_666t1:c.2071G>A (AFG3L2) NP_006787.2:p.Glu691Lys
XM_011525601.1:c.1870G>A (AFG3L2) XP_011523903.1:p.Glu624Lys
XM_011525601.3:c.1870G>A (AFG3L2) XP_011523903.1:p.Glu624Lys
XR_002958227.1:n.451+543C>T
NM_006796.3:c.2071G>A (AFG3L2) MANE Select NP_006787.2:p.Glu691Lys