Canonical Allele Identifier: CA2285198914

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337464T= , CM000680.2:g.12337464T=	GRCh38
NC_000018.9:g.12337463T= , CM000680.1:g.12337463T=	GRCh37
NC_000018.8:g.12327463T=	NCBI36
NG_023361.1:g.44813A= , LRG_666:g.44813A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1648A= (AFG3L2)	ENSP00000508998.1:n.*1648A=
ENST00000687477.1:n.588A= (AFG3L2)
ENST00000688199.1:c.1914A= (AFG3L2)	ENSP00000510237.1:p.Val638=
ENST00000691179.1:c.1977A= (AFG3L2)	ENSP00000509010.1:p.Val659=
ENST00000691970.1:c.*1429A= (AFG3L2)	ENSP00000508440.1:n.*1429A=
ENST00000692497.1:c.*482A= (AFG3L2)	ENSP00000509870.1:n.*482A=
ENST00000692988.1:n.1870A= (AFG3L2)
ENST00000269143.8:c.2052A= (AFG3L2) MANE Select	ENSP00000269143.2:p.Val684=
ENST00000269143.7:c.2052A= (AFG3L2)	ENSP00000269143.2:p.Val684=
ENST00000586691.1:c.88-6585T= (TUBB6)
NM_006796.2:c.2052A= , LRG_666t1:c.2052A= (AFG3L2)	NP_006787.2:p.Val684=
XM_011525601.1:c.1851A= (AFG3L2)	XP_011523903.1:p.Val617=
XM_011525601.3:c.1851A= (AFG3L2)	XP_011523903.1:p.Val617=
XR_002958227.1:n.451+562T=
NM_006796.3:c.2052A= (AFG3L2) MANE Select	NP_006787.2:p.Val684=