Canonical Allele Identifier: CA2285198911

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337462A= , CM000680.2:g.12337462A=	GRCh38
NC_000018.9:g.12337461A= , CM000680.1:g.12337461A=	GRCh37
NC_000018.8:g.12327461A=	NCBI36
NG_023361.1:g.44815T= , LRG_666:g.44815T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1650T= (AFG3L2)	ENSP00000508998.1:n.*1650T=
ENST00000687477.1:n.590T= (AFG3L2)
ENST00000688199.1:c.1916T= (AFG3L2)	ENSP00000510237.1:p.Leu639=
ENST00000691179.1:c.1979T= (AFG3L2)	ENSP00000509010.1:p.Leu660=
ENST00000691970.1:c.*1431T= (AFG3L2)	ENSP00000508440.1:n.*1431T=
ENST00000692497.1:c.*484T= (AFG3L2)	ENSP00000509870.1:n.*484T=
ENST00000692988.1:n.1872T= (AFG3L2)
ENST00000269143.8:c.2054T= (AFG3L2) MANE Select	ENSP00000269143.2:p.Leu685=
ENST00000269143.7:c.2054T= (AFG3L2)	ENSP00000269143.2:p.Leu685=
ENST00000586691.1:c.88-6587A= (TUBB6)
NM_006796.2:c.2054T= , LRG_666t1:c.2054T= (AFG3L2)	NP_006787.2:p.Leu685=
XM_011525601.1:c.1853T= (AFG3L2)	XP_011523903.1:p.Leu618=
XM_011525601.3:c.1853T= (AFG3L2)	XP_011523903.1:p.Leu618=
XR_002958227.1:n.451+560A=
NM_006796.3:c.2054T= (AFG3L2) MANE Select	NP_006787.2:p.Leu685=