Canonical Allele Identifier: CA2285198856

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337435G= , CM000680.2:g.12337435G=	GRCh38
NC_000018.9:g.12337434G= , CM000680.1:g.12337434G=	GRCh37
NC_000018.8:g.12327434G=	NCBI36
NG_023361.1:g.44842C= , LRG_666:g.44842C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.2081C= (AFG3L2) MANE Select	NP_006787.2:p.Ala694=
ENST00000269143.8:c.2081C= (AFG3L2) MANE Select	ENSP00000269143.2:p.Ala694=
NM_006796.2:c.2081C= , LRG_666t1:c.2081C= (AFG3L2)	NP_006787.2:p.Ala694=
ENST00000269143.7:c.2081C= (AFG3L2)	ENSP00000269143.2:p.Ala694=
ENST00000586691.1:c.88-6614G= (TUBB6)
ENST00000687337.1:c.*1677C= (AFG3L2)	ENSP00000508998.1:n.*1677C=
ENST00000687477.1:n.617C= (AFG3L2)
ENST00000688199.1:c.1943C= (AFG3L2)	ENSP00000510237.1:p.Ala648=
ENST00000691179.1:c.2006C= (AFG3L2)	ENSP00000509010.1:p.Ala669=
ENST00000691970.1:c.*1458C= (AFG3L2)	ENSP00000508440.1:n.*1458C=
ENST00000692497.1:c.*511C= (AFG3L2)	ENSP00000509870.1:n.*511C=
ENST00000692988.1:n.1899C= (AFG3L2)
XM_011525601.1:c.1880C= (AFG3L2)	XP_011523903.1:p.Ala627=
XM_011525601.3:c.1880C= (AFG3L2)	XP_011523903.1:p.Ala627=
XR_002958227.1:n.451+533G=