Canonical Allele Identifier: CA2811004087

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337303C>G , CM000680.2:g.12337303C>G	GRCh38
NC_000018.9:g.12337302C>G , CM000680.1:g.12337302C>G	GRCh37
NC_000018.8:g.12327302C>G	NCBI36
NG_023361.1:g.44974G>C , LRG_666:g.44974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1771+38G>C (AFG3L2)	ENSP00000508998.1:n.*1771+38G>C
ENST00000687477.1:n.711+38G>C (AFG3L2)
ENST00000688199.1:c.2037+38G>C (AFG3L2)	ENSP00000510237.1:n.2037+38G>C
ENST00000691179.1:c.2100+38G>C (AFG3L2)	ENSP00000509010.1:n.2100+38G>C
ENST00000691970.1:c.*1552+38G>C (AFG3L2)	ENSP00000508440.1:n.*1552+38G>C
ENST00000692497.1:c.*605+38G>C (AFG3L2)	ENSP00000509870.1:n.*605+38G>C
ENST00000692988.1:n.1993+38G>C (AFG3L2)
ENST00000269143.8:c.2175+38G>C (AFG3L2) MANE Select	ENSP00000269143.2:n.2175+38G>C
ENST00000269143.7:c.2175+38G>C (AFG3L2)	ENSP00000269143.2:n.2175+38G>C
ENST00000586691.1:c.88-6746C>G (TUBB6)
NM_006796.2:c.2175+38G>C , LRG_666t1:c.2175+38G>C (AFG3L2)	NP_006787.2:n.2175+38G>C
XM_011525601.1:c.1974+38G>C (AFG3L2)	XP_011523903.1:n.1974+38G>C
XM_011525601.3:c.1974+38G>C (AFG3L2)	XP_011523903.1:n.1974+38G>C
XR_002958227.1:n.451+401C>G
NM_006796.3:c.2175+38G>C (AFG3L2) MANE Select	NP_006787.2:n.2175+38G>C