Canonical Allele Identifier: CA129200

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340334T>C , CM000680.2:g.12340334T>C	GRCh38
NC_000018.9:g.12340333T>C , CM000680.1:g.12340333T>C	GRCh37
NC_000018.8:g.12330333T>C	NCBI36
NG_023361.1:g.41943A>G , LRG_666:g.41943A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1847A>G (AFG3L2) MANE Select	NP_006787.2:p.Tyr616Cys
ENST00000269143.8:c.1847A>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Tyr616Cys
NM_006796.2:c.1847A>G , LRG_666t1:c.1847A>G (AFG3L2)	NP_006787.2:p.Tyr616Cys
ENST00000269143.7:c.1847A>G (AFG3L2)	ENSP00000269143.2:p.Tyr616Cys
ENST00000586691.1:c.88-3715T>C (TUBB6)
ENST00000687337.1:c.*1443A>G (AFG3L2)	ENSP00000508998.1:n.*1443A>G
ENST00000687477.1:n.383A>G (AFG3L2)
ENST00000688199.1:c.1709A>G (AFG3L2)	ENSP00000510237.1:p.Tyr570Cys
ENST00000691179.1:c.1772A>G (AFG3L2)	ENSP00000509010.1:p.Tyr591Cys
ENST00000691970.1:c.*1224A>G (AFG3L2)	ENSP00000508440.1:n.*1224A>G
ENST00000692497.1:c.*277A>G (AFG3L2)	ENSP00000509870.1:n.*277A>G
ENST00000692988.1:n.1665A>G (AFG3L2)
XM_011525601.1:c.1780-2799A>G (AFG3L2)	XP_011523903.1:n.1780-2799A>G
XM_011525601.3:c.1780-2799A>G (AFG3L2)	XP_011523903.1:n.1780-2799A>G
XR_001753363.1:n.415+1754T>C
XR_002958227.1:n.451+3432T>C