Canonical Allele Identifier: CA2285198838

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337424C= , CM000680.2:g.12337424C=	GRCh38
NC_000018.9:g.12337423C= , CM000680.1:g.12337423C=	GRCh37
NC_000018.8:g.12327423C=	NCBI36
NG_023361.1:g.44853G= , LRG_666:g.44853G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1688G= (AFG3L2)	ENSP00000508998.1:n.*1688G=
ENST00000687477.1:n.628G= (AFG3L2)
ENST00000688199.1:c.1954G= (AFG3L2)	ENSP00000510237.1:p.Asp652=
ENST00000691179.1:c.2017G= (AFG3L2)	ENSP00000509010.1:p.Asp673=
ENST00000691970.1:c.*1469G= (AFG3L2)	ENSP00000508440.1:n.*1469G=
ENST00000692497.1:c.*522G= (AFG3L2)	ENSP00000509870.1:n.*522G=
ENST00000692988.1:n.1910G= (AFG3L2)
ENST00000269143.8:c.2092G= (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp698=
ENST00000269143.7:c.2092G= (AFG3L2)	ENSP00000269143.2:p.Asp698=
ENST00000586691.1:c.88-6625C= (TUBB6)
NM_006796.2:c.2092G= , LRG_666t1:c.2092G= (AFG3L2)	NP_006787.2:p.Asp698=
XM_011525601.1:c.1891G= (AFG3L2)	XP_011523903.1:p.Asp631=
XM_011525601.3:c.1891G= (AFG3L2)	XP_011523903.1:p.Asp631=
XR_002958227.1:n.451+522C=
NM_006796.3:c.2092G= (AFG3L2) MANE Select	NP_006787.2:p.Asp698=