Canonical Allele Identifier: CA2285198881

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337445C= , CM000680.2:g.12337445C=	GRCh38
NC_000018.9:g.12337444C= , CM000680.1:g.12337444C=	GRCh37
NC_000018.8:g.12327444C=	NCBI36
NG_023361.1:g.44832G= , LRG_666:g.44832G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1667G= (AFG3L2)	ENSP00000508998.1:n.*1667G=
ENST00000687477.1:n.607G= (AFG3L2)
ENST00000688199.1:c.1933G= (AFG3L2)	ENSP00000510237.1:p.Glu645=
ENST00000691179.1:c.1996G= (AFG3L2)	ENSP00000509010.1:p.Glu666=
ENST00000691970.1:c.*1448G= (AFG3L2)	ENSP00000508440.1:n.*1448G=
ENST00000692497.1:c.*501G= (AFG3L2)	ENSP00000509870.1:n.*501G=
ENST00000692988.1:n.1889G= (AFG3L2)
ENST00000269143.8:c.2071G= (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu691=
ENST00000269143.7:c.2071G= (AFG3L2)	ENSP00000269143.2:p.Glu691=
ENST00000586691.1:c.88-6604C= (TUBB6)
NM_006796.2:c.2071G= , LRG_666t1:c.2071G= (AFG3L2)	NP_006787.2:p.Glu691=
XM_011525601.1:c.1870G= (AFG3L2)	XP_011523903.1:p.Glu624=
XM_011525601.3:c.1870G= (AFG3L2)	XP_011523903.1:p.Glu624=
XR_002958227.1:n.451+543C=
NM_006796.3:c.2071G= (AFG3L2) MANE Select	NP_006787.2:p.Glu691=