Canonical Allele Identifier: CA2285198905

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337454G= , CM000680.2:g.12337454G=	GRCh38
NC_000018.9:g.12337453G= , CM000680.1:g.12337453G=	GRCh37
NC_000018.8:g.12327453G=	NCBI36
NG_023361.1:g.44823C= , LRG_666:g.44823C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1658C= (AFG3L2)	ENSP00000508998.1:n.*1658C=
ENST00000687477.1:n.598C= (AFG3L2)
ENST00000688199.1:c.1924C= (AFG3L2)	ENSP00000510237.1:p.Pro642=
ENST00000691179.1:c.1987C= (AFG3L2)	ENSP00000509010.1:p.Pro663=
ENST00000691970.1:c.*1439C= (AFG3L2)	ENSP00000508440.1:n.*1439C=
ENST00000692497.1:c.*492C= (AFG3L2)	ENSP00000509870.1:n.*492C=
ENST00000692988.1:n.1880C= (AFG3L2)
ENST00000269143.8:c.2062C= (AFG3L2) MANE Select	ENSP00000269143.2:p.Pro688=
ENST00000269143.7:c.2062C= (AFG3L2)	ENSP00000269143.2:p.Pro688=
ENST00000586691.1:c.88-6595G= (TUBB6)
NM_006796.2:c.2062C= , LRG_666t1:c.2062C= (AFG3L2)	NP_006787.2:p.Pro688=
XM_011525601.1:c.1861C= (AFG3L2)	XP_011523903.1:p.Pro621=
XM_011525601.3:c.1861C= (AFG3L2)	XP_011523903.1:p.Pro621=
XR_002958227.1:n.451+552G=
NM_006796.3:c.2062C= (AFG3L2) MANE Select	NP_006787.2:p.Pro688=