Canonical Allele Identifier: CA401943635

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337361T>A (hg19) ; chr18:g.12337362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337362T>A , CM000680.2:g.12337362T>A	GRCh38
NC_000018.9:g.12337361T>A , CM000680.1:g.12337361T>A	GRCh37
NC_000018.8:g.12327361T>A	NCBI36
NG_023361.1:g.44915A>T , LRG_666:g.44915A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1750A>T (AFG3L2)	ENSP00000508998.1:n.*1750A>T
ENST00000687477.1:n.690A>T (AFG3L2)
ENST00000688199.1:c.2016A>T (AFG3L2)	ENSP00000510237.1:p.Glu672Asp
ENST00000691179.1:c.2079A>T (AFG3L2)	ENSP00000509010.1:p.Glu693Asp
ENST00000691970.1:c.*1531A>T (AFG3L2)	ENSP00000508440.1:n.*1531A>T
ENST00000692497.1:c.*584A>T (AFG3L2)	ENSP00000509870.1:n.*584A>T
ENST00000692988.1:n.1972A>T (AFG3L2)
ENST00000269143.8:c.2154A>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu718Asp
ENST00000269143.7:c.2154A>T (AFG3L2)	ENSP00000269143.2:p.Glu718Asp
ENST00000586691.1:c.88-6687T>A (TUBB6)
NM_006796.2:c.2154A>T , LRG_666t1:c.2154A>T (AFG3L2)	NP_006787.2:p.Glu718Asp
XM_011525601.1:c.1953A>T (AFG3L2)	XP_011523903.1:p.Glu651Asp
XM_011525601.3:c.1953A>T (AFG3L2)	XP_011523903.1:p.Glu651Asp
XR_002958227.1:n.451+460T>A
NM_006796.3:c.2154A>T (AFG3L2) MANE Select	NP_006787.2:p.Glu718Asp