Canonical Allele Identifier: CA401947289

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340323G>T , CM000680.2:g.12340323G>T	GRCh38
NC_000018.9:g.12340322G>T , CM000680.1:g.12340322G>T	GRCh37
NC_000018.8:g.12330322G>T	NCBI36
NG_023361.1:g.41954C>A , LRG_666:g.41954C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1858C>A (AFG3L2) MANE Select	NP_006787.2:p.Gln620Lys
ENST00000269143.8:c.1858C>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln620Lys
NM_006796.2:c.1858C>A , LRG_666t1:c.1858C>A (AFG3L2)	NP_006787.2:p.Gln620Lys
ENST00000269143.7:c.1858C>A (AFG3L2)	ENSP00000269143.2:p.Gln620Lys
ENST00000586691.1:c.88-3726G>T (TUBB6)
ENST00000687337.1:c.*1454C>A (AFG3L2)	ENSP00000508998.1:n.*1454C>A
ENST00000687477.1:n.394C>A (AFG3L2)
ENST00000688199.1:c.1720C>A (AFG3L2)	ENSP00000510237.1:p.Gln574Lys
ENST00000691179.1:c.1783C>A (AFG3L2)	ENSP00000509010.1:p.Gln595Lys
ENST00000691970.1:c.*1235C>A (AFG3L2)	ENSP00000508440.1:n.*1235C>A
ENST00000692497.1:c.*288C>A (AFG3L2)	ENSP00000509870.1:n.*288C>A
ENST00000692988.1:n.1676C>A (AFG3L2)
XM_011525601.1:c.1780-2788C>A (AFG3L2)	XP_011523903.1:n.1780-2788C>A
XM_011525601.3:c.1780-2788C>A (AFG3L2)	XP_011523903.1:n.1780-2788C>A
XR_001753363.1:n.415+1743G>T
XR_002958227.1:n.451+3421G>T