Canonical Allele Identifier: CA401947254

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340320G>C , CM000680.2:g.12340320G>C	GRCh38
NC_000018.9:g.12340319G>C , CM000680.1:g.12340319G>C	GRCh37
NC_000018.8:g.12330319G>C	NCBI36
NG_023361.1:g.41957C>G , LRG_666:g.41957C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1861C>G (AFG3L2) MANE Select	NP_006787.2:p.Leu621Val
ENST00000269143.8:c.1861C>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Leu621Val
NM_006796.2:c.1861C>G , LRG_666t1:c.1861C>G (AFG3L2)	NP_006787.2:p.Leu621Val
ENST00000269143.7:c.1861C>G (AFG3L2)	ENSP00000269143.2:p.Leu621Val
ENST00000586691.1:c.88-3729G>C (TUBB6)
ENST00000687337.1:c.*1457C>G (AFG3L2)	ENSP00000508998.1:n.*1457C>G
ENST00000687477.1:n.397C>G (AFG3L2)
ENST00000688199.1:c.1723C>G (AFG3L2)	ENSP00000510237.1:p.Leu575Val
ENST00000691179.1:c.1786C>G (AFG3L2)	ENSP00000509010.1:p.Leu596Val
ENST00000691970.1:c.*1238C>G (AFG3L2)	ENSP00000508440.1:n.*1238C>G
ENST00000692497.1:c.*291C>G (AFG3L2)	ENSP00000509870.1:n.*291C>G
ENST00000692988.1:n.1679C>G (AFG3L2)
XM_011525601.1:c.1780-2785C>G (AFG3L2)	XP_011523903.1:n.1780-2785C>G
XM_011525601.3:c.1780-2785C>G (AFG3L2)	XP_011523903.1:n.1780-2785C>G
XR_001753363.1:n.415+1740G>C
XR_002958227.1:n.451+3418G>C