Canonical Allele Identifier: CA340424
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5472
ClinVar RCV Id: RCV000005806
dbSNP Id: rs151344521

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337435G>T , CM000680.2:g.12337435G>T GRCh38
NC_000018.9:g.12337434G>T , CM000680.1:g.12337434G>T GRCh37
NC_000018.8:g.12327434G>T NCBI36
NG_023361.1:g.44842C>A , LRG_666:g.44842C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*1677C>A (AFG3L2) ENSP00000508998.1:n.*1677C>A
ENST00000687477.1:n.617C>A (AFG3L2)
ENST00000688199.1:c.1943C>A (AFG3L2) ENSP00000510237.1:p.Ala648Glu
ENST00000691179.1:c.2006C>A (AFG3L2) ENSP00000509010.1:p.Ala669Glu
ENST00000691970.1:c.*1458C>A (AFG3L2) ENSP00000508440.1:n.*1458C>A
ENST00000692497.1:c.*511C>A (AFG3L2) ENSP00000509870.1:n.*511C>A
ENST00000692988.1:n.1899C>A (AFG3L2)
ENST00000269143.8:c.2081C>A (AFG3L2) MANE Select ENSP00000269143.2:p.Ala694Glu
ENST00000269143.7:c.2081C>A (AFG3L2) ENSP00000269143.2:p.Ala694Glu
ENST00000586691.1:c.88-6614G>T (TUBB6)
NM_006796.2:c.2081C>A , LRG_666t1:c.2081C>A (AFG3L2) NP_006787.2:p.Ala694Glu
XM_011525601.1:c.1880C>A (AFG3L2) XP_011523903.1:p.Ala627Glu
XM_011525601.3:c.1880C>A (AFG3L2) XP_011523903.1:p.Ala627Glu
XR_002958227.1:n.451+533G>T
NM_006796.3:c.2081C>A (AFG3L2) MANE Select NP_006787.2:p.Ala694Glu