Canonical Allele Identifier: CA401944202

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337482G>T (hg19) ; chr18:g.12337483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337483G>T , CM000680.2:g.12337483G>T	GRCh38
NC_000018.9:g.12337482G>T , CM000680.1:g.12337482G>T	GRCh37
NC_000018.8:g.12327482G>T	NCBI36
NG_023361.1:g.44794C>A , LRG_666:g.44794C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1629C>A (AFG3L2)	ENSP00000508998.1:n.*1629C>A
ENST00000687477.1:n.569C>A (AFG3L2)
ENST00000688199.1:c.1895C>A (AFG3L2)	ENSP00000510237.1:p.Pro632Gln
ENST00000691179.1:c.1958C>A (AFG3L2)	ENSP00000509010.1:p.Pro653Gln
ENST00000691970.1:c.*1410C>A (AFG3L2)	ENSP00000508440.1:n.*1410C>A
ENST00000692497.1:c.*463C>A (AFG3L2)	ENSP00000509870.1:n.*463C>A
ENST00000692988.1:n.1851C>A (AFG3L2)
ENST00000269143.8:c.2033C>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Pro678Gln
ENST00000269143.7:c.2033C>A (AFG3L2)	ENSP00000269143.2:p.Pro678Gln
ENST00000586691.1:c.88-6566G>T (TUBB6)
NM_006796.2:c.2033C>A , LRG_666t1:c.2033C>A (AFG3L2)	NP_006787.2:p.Pro678Gln
XM_011525601.1:c.1832C>A (AFG3L2)	XP_011523903.1:p.Pro611Gln
XM_011525601.3:c.1832C>A (AFG3L2)	XP_011523903.1:p.Pro611Gln
XR_002958227.1:n.451+581G>T
NM_006796.3:c.2033C>A (AFG3L2) MANE Select	NP_006787.2:p.Pro678Gln