Canonical Allele Identifier: CA2285198792

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337403T= , CM000680.2:g.12337403T=	GRCh38
NC_000018.9:g.12337402T= , CM000680.1:g.12337402T=	GRCh37
NC_000018.8:g.12327402T=	NCBI36
NG_023361.1:g.44874A= , LRG_666:g.44874A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1709A= (AFG3L2)	ENSP00000508998.1:n.*1709A=
ENST00000687477.1:n.649A= (AFG3L2)
ENST00000688199.1:c.1975A= (AFG3L2)	ENSP00000510237.1:p.Ile659=
ENST00000691179.1:c.2038A= (AFG3L2)	ENSP00000509010.1:p.Ile680=
ENST00000691970.1:c.*1490A= (AFG3L2)	ENSP00000508440.1:n.*1490A=
ENST00000692497.1:c.*543A= (AFG3L2)	ENSP00000509870.1:n.*543A=
ENST00000692988.1:n.1931A= (AFG3L2)
ENST00000269143.8:c.2113A= (AFG3L2) MANE Select	ENSP00000269143.2:p.Ile705=
ENST00000269143.7:c.2113A= (AFG3L2)	ENSP00000269143.2:p.Ile705=
ENST00000586691.1:c.88-6646T= (TUBB6)
NM_006796.2:c.2113A= , LRG_666t1:c.2113A= (AFG3L2)	NP_006787.2:p.Ile705=
XM_011525601.1:c.1912A= (AFG3L2)	XP_011523903.1:p.Ile638=
XM_011525601.3:c.1912A= (AFG3L2)	XP_011523903.1:p.Ile638=
XR_002958227.1:n.451+501T=
NM_006796.3:c.2113A= (AFG3L2) MANE Select	NP_006787.2:p.Ile705=