Canonical Allele Identifier: CA2285198956

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337508C= , CM000680.2:g.12337508C=	GRCh38
NC_000018.9:g.12337507C= , CM000680.1:g.12337507C=	GRCh37
NC_000018.8:g.12327507C=	NCBI36
NG_023361.1:g.44769G= , LRG_666:g.44769G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1604G= (AFG3L2)	ENSP00000508998.1:n.*1604G=
ENST00000687477.1:n.544G= (AFG3L2)
ENST00000688199.1:c.1870G= (AFG3L2)	ENSP00000510237.1:p.Val624=
ENST00000691179.1:c.1933G= (AFG3L2)	ENSP00000509010.1:p.Val645=
ENST00000691970.1:c.*1385G= (AFG3L2)	ENSP00000508440.1:n.*1385G=
ENST00000692497.1:c.*438G= (AFG3L2)	ENSP00000509870.1:n.*438G=
ENST00000692988.1:n.1826G= (AFG3L2)
ENST00000269143.8:c.2008G= (AFG3L2) MANE Select	ENSP00000269143.2:p.Val670=
ENST00000269143.7:c.2008G= (AFG3L2)	ENSP00000269143.2:p.Val670=
ENST00000586691.1:c.88-6541C= (TUBB6)
NM_006796.2:c.2008G= , LRG_666t1:c.2008G= (AFG3L2)	NP_006787.2:p.Val670=
XM_011525601.1:c.1807G= (AFG3L2)	XP_011523903.1:p.Val603=
XM_011525601.3:c.1807G= (AFG3L2)	XP_011523903.1:p.Val603=
XR_002958227.1:n.451+606C=
NM_006796.3:c.2008G= (AFG3L2) MANE Select	NP_006787.2:p.Val670=