Canonical Allele Identifier: CA8896420

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12344197C>T , CM000680.2:g.12344197C>T	GRCh38
NC_000018.9:g.12344196C>T , CM000680.1:g.12344196C>T	GRCh37
NC_000018.8:g.12334196C>T	NCBI36
NG_023361.1:g.38080G>A , LRG_666:g.38080G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1714G>A (AFG3L2) MANE Select	NP_006787.2:p.Ala572Thr
ENST00000269143.8:c.1714G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Ala572Thr
NM_006796.2:c.1714G>A , LRG_666t1:c.1714G>A (AFG3L2)	NP_006787.2:p.Ala572Thr
ENST00000269143.7:c.1714G>A (AFG3L2)	ENSP00000269143.2:p.Ala572Thr
ENST00000586691.1:c.236C>T (TUBB6)
ENST00000588893.1:n.107G>A (AFG3L2)
ENST00000683671.1:n.200G>A (AFG3L2)
ENST00000687337.1:c.*1310G>A (AFG3L2)	ENSP00000508998.1:n.*1310G>A
ENST00000688199.1:c.1576G>A (AFG3L2)	ENSP00000510237.1:p.Ala526Thr
ENST00000691179.1:c.1639G>A (AFG3L2)	ENSP00000509010.1:p.Ala547Thr
ENST00000691970.1:c.*1091G>A (AFG3L2)	ENSP00000508440.1:n.*1091G>A
ENST00000692497.1:c.*144G>A (AFG3L2)	ENSP00000509870.1:n.*144G>A
ENST00000692988.1:n.1532G>A (AFG3L2)
XM_011525601.1:c.1714G>A (AFG3L2)	XP_011523903.1:p.Ala572Thr
XM_011525601.3:c.1714G>A (AFG3L2)	XP_011523903.1:p.Ala572Thr
XR_001753363.1:n.564C>T
XR_002958227.1:n.600C>T