Canonical Allele Identifier: CA401944453

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337534T>A (hg19) ; chr18:g.12337535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337535T>A , CM000680.2:g.12337535T>A	GRCh38
NC_000018.9:g.12337534T>A , CM000680.1:g.12337534T>A	GRCh37
NC_000018.8:g.12327534T>A	NCBI36
NG_023361.1:g.44742A>T , LRG_666:g.44742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577A>T (AFG3L2)	ENSP00000508998.1:n.*1577A>T
ENST00000687477.1:n.517A>T (AFG3L2)
ENST00000688199.1:c.1843A>T (AFG3L2)	ENSP00000510237.1:p.Ile615Phe
ENST00000691179.1:c.1906A>T (AFG3L2)	ENSP00000509010.1:p.Ile636Phe
ENST00000691970.1:c.*1358A>T (AFG3L2)	ENSP00000508440.1:n.*1358A>T
ENST00000692497.1:c.*411A>T (AFG3L2)	ENSP00000509870.1:n.*411A>T
ENST00000692988.1:n.1799A>T (AFG3L2)
ENST00000269143.8:c.1981A>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Ile661Phe
ENST00000269143.7:c.1981A>T (AFG3L2)	ENSP00000269143.2:p.Ile661Phe
ENST00000586691.1:c.88-6514T>A (TUBB6)
NM_006796.2:c.1981A>T , LRG_666t1:c.1981A>T (AFG3L2)	NP_006787.2:p.Ile661Phe
XM_011525601.1:c.1780A>T (AFG3L2)	XP_011523903.1:p.Ile594Phe
XM_011525601.3:c.1780A>T (AFG3L2)	XP_011523903.1:p.Ile594Phe
XR_002958227.1:n.451+633T>A
NM_006796.3:c.1981A>T (AFG3L2) MANE Select	NP_006787.2:p.Ile661Phe