Canonical Allele Identifier: CA503244603

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337340C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337341C>T , CM000680.2:g.12337341C>T	GRCh38
NC_000018.9:g.12337340C>T , CM000680.1:g.12337340C>T	GRCh37
NC_000018.8:g.12327340C>T	NCBI36
NG_023361.1:g.44936G>A , LRG_666:g.44936G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1771G>A (AFG3L2)	ENSP00000508998.1:n.*1771G>A
ENST00000687477.1:n.711G>A (AFG3L2)
ENST00000688199.1:c.2037G>A (AFG3L2)	ENSP00000510237.1:p.Lys679=
ENST00000691179.1:c.2100G>A (AFG3L2)	ENSP00000509010.1:p.Lys700=
ENST00000691970.1:c.*1552G>A (AFG3L2)	ENSP00000508440.1:n.*1552G>A
ENST00000692497.1:c.*605G>A (AFG3L2)	ENSP00000509870.1:n.*605G>A
ENST00000692988.1:n.1993G>A (AFG3L2)
ENST00000269143.8:c.2175G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys725=
ENST00000269143.7:c.2175G>A (AFG3L2)	ENSP00000269143.2:p.Lys725=
ENST00000586691.1:c.88-6708C>T (TUBB6)
NM_006796.2:c.2175G>A , LRG_666t1:c.2175G>A (AFG3L2)	NP_006787.2:p.Lys725=
XM_011525601.1:c.1974G>A (AFG3L2)	XP_011523903.1:p.Lys658=
XM_011525601.3:c.1974G>A (AFG3L2)	XP_011523903.1:p.Lys658=
XR_002958227.1:n.451+439C>T
NM_006796.3:c.2175G>A (AFG3L2) MANE Select	NP_006787.2:p.Lys725=