Canonical Allele Identifier: CA2285198929

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337485G= , CM000680.2:g.12337485G=	GRCh38
NC_000018.9:g.12337484G= , CM000680.1:g.12337484G=	GRCh37
NC_000018.8:g.12327484G=	NCBI36
NG_023361.1:g.44792C= , LRG_666:g.44792C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1627C= (AFG3L2)	ENSP00000508998.1:n.*1627C=
ENST00000687477.1:n.567C= (AFG3L2)
ENST00000688199.1:c.1893C= (AFG3L2)	ENSP00000510237.1:p.Leu631=
ENST00000691179.1:c.1956C= (AFG3L2)	ENSP00000509010.1:p.Leu652=
ENST00000691970.1:c.*1408C= (AFG3L2)	ENSP00000508440.1:n.*1408C=
ENST00000692497.1:c.*461C= (AFG3L2)	ENSP00000509870.1:n.*461C=
ENST00000692988.1:n.1849C= (AFG3L2)
ENST00000269143.8:c.2031C= (AFG3L2) MANE Select	ENSP00000269143.2:p.Leu677=
ENST00000269143.7:c.2031C= (AFG3L2)	ENSP00000269143.2:p.Leu677=
ENST00000586691.1:c.88-6564G= (TUBB6)
NM_006796.2:c.2031C= , LRG_666t1:c.2031C= (AFG3L2)	NP_006787.2:p.Leu677=
XM_011525601.1:c.1830C= (AFG3L2)	XP_011523903.1:p.Leu610=
XM_011525601.3:c.1830C= (AFG3L2)	XP_011523903.1:p.Leu610=
XR_002958227.1:n.451+583G=
NM_006796.3:c.2031C= (AFG3L2) MANE Select	NP_006787.2:p.Leu677=