Canonical Allele Identifier: CA401949553

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12344162C>T , CM000680.2:g.12344162C>T	GRCh38
NC_000018.9:g.12344161C>T , CM000680.1:g.12344161C>T	GRCh37
NC_000018.8:g.12334161C>T	NCBI36
NG_023361.1:g.38115G>A , LRG_666:g.38115G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1749G>A (AFG3L2) MANE Select	NP_006787.2:p.Trp583Ter
ENST00000269143.8:c.1749G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Trp583Ter
NM_006796.2:c.1749G>A , LRG_666t1:c.1749G>A (AFG3L2)	NP_006787.2:p.Trp583Ter
ENST00000269143.7:c.1749G>A (AFG3L2)	ENSP00000269143.2:p.Trp583Ter
ENST00000586691.1:c.201C>T (TUBB6)
ENST00000588893.1:n.142G>A (AFG3L2)
ENST00000683671.1:n.235G>A (AFG3L2)
ENST00000687337.1:c.*1345G>A (AFG3L2)	ENSP00000508998.1:n.*1345G>A
ENST00000688199.1:c.1611G>A (AFG3L2)	ENSP00000510237.1:p.Trp537Ter
ENST00000691179.1:c.1674G>A (AFG3L2)	ENSP00000509010.1:p.Trp558Ter
ENST00000691970.1:c.*1126G>A (AFG3L2)	ENSP00000508440.1:n.*1126G>A
ENST00000692497.1:c.*179G>A (AFG3L2)	ENSP00000509870.1:n.*179G>A
ENST00000692988.1:n.1567G>A (AFG3L2)
XM_011525601.1:c.1749G>A (AFG3L2)	XP_011523903.1:p.Trp583Ter
XM_011525601.3:c.1749G>A (AFG3L2)	XP_011523903.1:p.Trp583Ter
XR_001753363.1:n.529C>T
XR_002958227.1:n.565C>T