Canonical Allele Identifier: CA2285198928

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337481G= , CM000680.2:g.12337481G=	GRCh38
NC_000018.9:g.12337480G= , CM000680.1:g.12337480G=	GRCh37
NC_000018.8:g.12327480G=	NCBI36
NG_023361.1:g.44796C= , LRG_666:g.44796C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1631C= (AFG3L2)	ENSP00000508998.1:n.*1631C=
ENST00000687477.1:n.571C= (AFG3L2)
ENST00000688199.1:c.1897C= (AFG3L2)	ENSP00000510237.1:p.Arg633=
ENST00000691179.1:c.1960C= (AFG3L2)	ENSP00000509010.1:p.Arg654=
ENST00000691970.1:c.*1412C= (AFG3L2)	ENSP00000508440.1:n.*1412C=
ENST00000692497.1:c.*465C= (AFG3L2)	ENSP00000509870.1:n.*465C=
ENST00000692988.1:n.1853C= (AFG3L2)
ENST00000269143.8:c.2035C= (AFG3L2) MANE Select	ENSP00000269143.2:p.Arg679=
ENST00000269143.7:c.2035C= (AFG3L2)	ENSP00000269143.2:p.Arg679=
ENST00000586691.1:c.88-6568G= (TUBB6)
NM_006796.2:c.2035C= , LRG_666t1:c.2035C= (AFG3L2)	NP_006787.2:p.Arg679=
XM_011525601.1:c.1834C= (AFG3L2)	XP_011523903.1:p.Arg612=
XM_011525601.3:c.1834C= (AFG3L2)	XP_011523903.1:p.Arg612=
XR_002958227.1:n.451+579G=
NM_006796.3:c.2035C= (AFG3L2) MANE Select	NP_006787.2:p.Arg679=