Canonical Allele Identifier: CA2285198811

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337411C= , CM000680.2:g.12337411C=	GRCh38
NC_000018.9:g.12337410C= , CM000680.1:g.12337410C=	GRCh37
NC_000018.8:g.12327410C=	NCBI36
NG_023361.1:g.44866G= , LRG_666:g.44866G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1701G= (AFG3L2)	ENSP00000508998.1:n.*1701G=
ENST00000687477.1:n.641G= (AFG3L2)
ENST00000688199.1:c.1967G= (AFG3L2)	ENSP00000510237.1:p.Arg656=
ENST00000691179.1:c.2030G= (AFG3L2)	ENSP00000509010.1:p.Arg677=
ENST00000691970.1:c.*1482G= (AFG3L2)	ENSP00000508440.1:n.*1482G=
ENST00000692497.1:c.*535G= (AFG3L2)	ENSP00000509870.1:n.*535G=
ENST00000692988.1:n.1923G= (AFG3L2)
ENST00000269143.8:c.2105G= (AFG3L2) MANE Select	ENSP00000269143.2:p.Arg702=
ENST00000269143.7:c.2105G= (AFG3L2)	ENSP00000269143.2:p.Arg702=
ENST00000586691.1:c.88-6638C= (TUBB6)
NM_006796.2:c.2105G= , LRG_666t1:c.2105G= (AFG3L2)	NP_006787.2:p.Arg702=
XM_011525601.1:c.1904G= (AFG3L2)	XP_011523903.1:p.Arg635=
XM_011525601.3:c.1904G= (AFG3L2)	XP_011523903.1:p.Arg635=
XR_002958227.1:n.451+509C=
NM_006796.3:c.2105G= (AFG3L2) MANE Select	NP_006787.2:p.Arg702=