Canonical Allele Identifier: CA2285198946

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337500T= , CM000680.2:g.12337500T=	GRCh38
NC_000018.9:g.12337499T= , CM000680.1:g.12337499T=	GRCh37
NC_000018.8:g.12327499T=	NCBI36
NG_023361.1:g.44777A= , LRG_666:g.44777A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1612A= (AFG3L2)	ENSP00000508998.1:n.*1612A=
ENST00000687477.1:n.552A= (AFG3L2)
ENST00000688199.1:c.1878A= (AFG3L2)	ENSP00000510237.1:p.Gln626=
ENST00000691179.1:c.1941A= (AFG3L2)	ENSP00000509010.1:p.Gln647=
ENST00000691970.1:c.*1393A= (AFG3L2)	ENSP00000508440.1:n.*1393A=
ENST00000692497.1:c.*446A= (AFG3L2)	ENSP00000509870.1:n.*446A=
ENST00000692988.1:n.1834A= (AFG3L2)
ENST00000269143.8:c.2016A= (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln672=
ENST00000269143.7:c.2016A= (AFG3L2)	ENSP00000269143.2:p.Gln672=
ENST00000586691.1:c.88-6549T= (TUBB6)
NM_006796.2:c.2016A= , LRG_666t1:c.2016A= (AFG3L2)	NP_006787.2:p.Gln672=
XM_011525601.1:c.1815A= (AFG3L2)	XP_011523903.1:p.Gln605=
XM_011525601.3:c.1815A= (AFG3L2)	XP_011523903.1:p.Gln605=
XR_002958227.1:n.451+598T=
NM_006796.3:c.2016A= (AFG3L2) MANE Select	NP_006787.2:p.Gln672=