Canonical Allele Identifier: CA2285198736

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337366G= , CM000680.2:g.12337366G=	GRCh38
NC_000018.9:g.12337365G= , CM000680.1:g.12337365G=	GRCh37
NC_000018.8:g.12327365G=	NCBI36
NG_023361.1:g.44911C= , LRG_666:g.44911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1746C= (AFG3L2)	ENSP00000508998.1:n.*1746C=
ENST00000687477.1:n.686C= (AFG3L2)
ENST00000688199.1:c.2012C= (AFG3L2)	ENSP00000510237.1:p.Thr671=
ENST00000691179.1:c.2075C= (AFG3L2)	ENSP00000509010.1:p.Thr692=
ENST00000691970.1:c.*1527C= (AFG3L2)	ENSP00000508440.1:n.*1527C=
ENST00000692497.1:c.*580C= (AFG3L2)	ENSP00000509870.1:n.*580C=
ENST00000692988.1:n.1968C= (AFG3L2)
ENST00000269143.8:c.2150C= (AFG3L2) MANE Select	ENSP00000269143.2:p.Thr717=
ENST00000269143.7:c.2150C= (AFG3L2)	ENSP00000269143.2:p.Thr717=
ENST00000586691.1:c.88-6683G= (TUBB6)
NM_006796.2:c.2150C= , LRG_666t1:c.2150C= (AFG3L2)	NP_006787.2:p.Thr717=
XM_011525601.1:c.1949C= (AFG3L2)	XP_011523903.1:p.Thr650=
XM_011525601.3:c.1949C= (AFG3L2)	XP_011523903.1:p.Thr650=
XR_002958227.1:n.451+464G=
NM_006796.3:c.2150C= (AFG3L2) MANE Select	NP_006787.2:p.Thr717=