Canonical Allele Identifier: CA2285200416

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340220G= , CM000680.2:g.12340220G=	GRCh38
NC_000018.9:g.12340219G= , CM000680.1:g.12340219G=	GRCh37
NC_000018.8:g.12330219G=	NCBI36
NG_023361.1:g.42057C= , LRG_666:g.42057C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1961C= (AFG3L2) MANE Select	NP_006787.2:p.Thr654=
ENST00000269143.8:c.1961C= (AFG3L2) MANE Select	ENSP00000269143.2:p.Thr654=
NM_006796.2:c.1961C= , LRG_666t1:c.1961C= (AFG3L2)	NP_006787.2:p.Thr654=
ENST00000269143.7:c.1961C= (AFG3L2)	ENSP00000269143.2:p.Thr654=
ENST00000586691.1:c.88-3829G= (TUBB6)
ENST00000687337.1:c.*1557C= (AFG3L2)	ENSP00000508998.1:n.*1557C=
ENST00000687477.1:n.497C= (AFG3L2)
ENST00000688199.1:c.1823C= (AFG3L2)	ENSP00000510237.1:p.Thr608=
ENST00000691179.1:c.1886C= (AFG3L2)	ENSP00000509010.1:p.Thr629=
ENST00000691970.1:c.*1338C= (AFG3L2)	ENSP00000508440.1:n.*1338C=
ENST00000692497.1:c.*391C= (AFG3L2)	ENSP00000509870.1:n.*391C=
ENST00000692988.1:n.1779C= (AFG3L2)
XM_011525601.1:c.1780-2685C= (AFG3L2)	XP_011523903.1:n.1780-2685C=
XM_011525601.3:c.1780-2685C= (AFG3L2)	XP_011523903.1:n.1780-2685C=
XR_001753363.1:n.415+1640G=
XR_002958227.1:n.451+3318G=