Canonical Allele Identifier: CA503244818

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337436A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337437A>T , CM000680.2:g.12337437A>T	GRCh38
NC_000018.9:g.12337436A>T , CM000680.1:g.12337436A>T	GRCh37
NC_000018.8:g.12327436A>T	NCBI36
NG_023361.1:g.44840T>A , LRG_666:g.44840T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1675T>A (AFG3L2)	ENSP00000508998.1:n.*1675T>A
ENST00000687477.1:n.615T>A (AFG3L2)
ENST00000688199.1:c.1941T>A (AFG3L2)	ENSP00000510237.1:p.Thr647=
ENST00000691179.1:c.2004T>A (AFG3L2)	ENSP00000509010.1:p.Thr668=
ENST00000691970.1:c.*1456T>A (AFG3L2)	ENSP00000508440.1:n.*1456T>A
ENST00000692497.1:c.*509T>A (AFG3L2)	ENSP00000509870.1:n.*509T>A
ENST00000692988.1:n.1897T>A (AFG3L2)
ENST00000269143.8:c.2079T>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Thr693=
ENST00000269143.7:c.2079T>A (AFG3L2)	ENSP00000269143.2:p.Thr693=
ENST00000586691.1:c.88-6612A>T (TUBB6)
NM_006796.2:c.2079T>A , LRG_666t1:c.2079T>A (AFG3L2)	NP_006787.2:p.Thr693=
XM_011525601.1:c.1878T>A (AFG3L2)	XP_011523903.1:p.Thr626=
XM_011525601.3:c.1878T>A (AFG3L2)	XP_011523903.1:p.Thr626=
XR_002958227.1:n.451+535A>T
NM_006796.3:c.2079T>A (AFG3L2) MANE Select	NP_006787.2:p.Thr693=