Canonical Allele Identifier: CA401944411

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337525A>T (hg19) ; chr18:g.12337526A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337526A>T , CM000680.2:g.12337526A>T	GRCh38
NC_000018.9:g.12337525A>T , CM000680.1:g.12337525A>T	GRCh37
NC_000018.8:g.12327525A>T	NCBI36
NG_023361.1:g.44751T>A , LRG_666:g.44751T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1586T>A (AFG3L2)	ENSP00000508998.1:n.*1586T>A
ENST00000687477.1:n.526T>A (AFG3L2)
ENST00000688199.1:c.1852T>A (AFG3L2)	ENSP00000510237.1:p.Phe618Ile
ENST00000691179.1:c.1915T>A (AFG3L2)	ENSP00000509010.1:p.Phe639Ile
ENST00000691970.1:c.*1367T>A (AFG3L2)	ENSP00000508440.1:n.*1367T>A
ENST00000692497.1:c.*420T>A (AFG3L2)	ENSP00000509870.1:n.*420T>A
ENST00000692988.1:n.1808T>A (AFG3L2)
ENST00000269143.8:c.1990T>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Phe664Ile
ENST00000269143.7:c.1990T>A (AFG3L2)	ENSP00000269143.2:p.Phe664Ile
ENST00000586691.1:c.88-6523A>T (TUBB6)
NM_006796.2:c.1990T>A , LRG_666t1:c.1990T>A (AFG3L2)	NP_006787.2:p.Phe664Ile
XM_011525601.1:c.1789T>A (AFG3L2)	XP_011523903.1:p.Phe597Ile
XM_011525601.3:c.1789T>A (AFG3L2)	XP_011523903.1:p.Phe597Ile
XR_002958227.1:n.451+624A>T
NM_006796.3:c.1990T>A (AFG3L2) MANE Select	NP_006787.2:p.Phe664Ile