Canonical Allele Identifier: CA503244747

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337400A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337401A>T , CM000680.2:g.12337401A>T	GRCh38
NC_000018.9:g.12337400A>T , CM000680.1:g.12337400A>T	GRCh37
NC_000018.8:g.12327400A>T	NCBI36
NG_023361.1:g.44876T>A , LRG_666:g.44876T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1711T>A (AFG3L2)	ENSP00000508998.1:n.*1711T>A
ENST00000687477.1:n.651T>A (AFG3L2)
ENST00000688199.1:c.1977T>A (AFG3L2)	ENSP00000510237.1:p.Ile659=
ENST00000691179.1:c.2040T>A (AFG3L2)	ENSP00000509010.1:p.Ile680=
ENST00000691970.1:c.*1492T>A (AFG3L2)	ENSP00000508440.1:n.*1492T>A
ENST00000692497.1:c.*545T>A (AFG3L2)	ENSP00000509870.1:n.*545T>A
ENST00000692988.1:n.1933T>A (AFG3L2)
ENST00000269143.8:c.2115T>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Ile705=
ENST00000269143.7:c.2115T>A (AFG3L2)	ENSP00000269143.2:p.Ile705=
ENST00000586691.1:c.88-6648A>T (TUBB6)
NM_006796.2:c.2115T>A , LRG_666t1:c.2115T>A (AFG3L2)	NP_006787.2:p.Ile705=
XM_011525601.1:c.1914T>A (AFG3L2)	XP_011523903.1:p.Ile638=
XM_011525601.3:c.1914T>A (AFG3L2)	XP_011523903.1:p.Ile638=
XR_002958227.1:n.451+499A>T
NM_006796.3:c.2115T>A (AFG3L2) MANE Select	NP_006787.2:p.Ile705=