Canonical Allele Identifier: CA2285198930

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337486A= , CM000680.2:g.12337486A=	GRCh38
NC_000018.9:g.12337485A= , CM000680.1:g.12337485A=	GRCh37
NC_000018.8:g.12327485A=	NCBI36
NG_023361.1:g.44791T= , LRG_666:g.44791T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1626T= (AFG3L2)	ENSP00000508998.1:n.*1626T=
ENST00000687477.1:n.566T= (AFG3L2)
ENST00000688199.1:c.1892T= (AFG3L2)	ENSP00000510237.1:p.Leu631=
ENST00000691179.1:c.1955T= (AFG3L2)	ENSP00000509010.1:p.Leu652=
ENST00000691970.1:c.*1407T= (AFG3L2)	ENSP00000508440.1:n.*1407T=
ENST00000692497.1:c.*460T= (AFG3L2)	ENSP00000509870.1:n.*460T=
ENST00000692988.1:n.1848T= (AFG3L2)
ENST00000269143.8:c.2030T= (AFG3L2) MANE Select	ENSP00000269143.2:p.Leu677=
ENST00000269143.7:c.2030T= (AFG3L2)	ENSP00000269143.2:p.Leu677=
ENST00000586691.1:c.88-6563A= (TUBB6)
NM_006796.2:c.2030T= , LRG_666t1:c.2030T= (AFG3L2)	NP_006787.2:p.Leu677=
XM_011525601.1:c.1829T= (AFG3L2)	XP_011523903.1:p.Leu610=
XM_011525601.3:c.1829T= (AFG3L2)	XP_011523903.1:p.Leu610=
XR_002958227.1:n.451+584A=
NM_006796.3:c.2030T= (AFG3L2) MANE Select	NP_006787.2:p.Leu677=