Canonical Allele Identifier: CA401944414

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337526C>A (hg19) ; chr18:g.12337527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337527C>A , CM000680.2:g.12337527C>A	GRCh38
NC_000018.9:g.12337526C>A , CM000680.1:g.12337526C>A	GRCh37
NC_000018.8:g.12327526C>A	NCBI36
NG_023361.1:g.44750G>T , LRG_666:g.44750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1585G>T (AFG3L2)	ENSP00000508998.1:n.*1585G>T
ENST00000687477.1:n.525G>T (AFG3L2)
ENST00000688199.1:c.1851G>T (AFG3L2)	ENSP00000510237.1:p.Gln617His
ENST00000691179.1:c.1914G>T (AFG3L2)	ENSP00000509010.1:p.Gln638His
ENST00000691970.1:c.*1366G>T (AFG3L2)	ENSP00000508440.1:n.*1366G>T
ENST00000692497.1:c.*419G>T (AFG3L2)	ENSP00000509870.1:n.*419G>T
ENST00000692988.1:n.1807G>T (AFG3L2)
ENST00000269143.8:c.1989G>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln663His
ENST00000269143.7:c.1989G>T (AFG3L2)	ENSP00000269143.2:p.Gln663His
ENST00000586691.1:c.88-6522C>A (TUBB6)
NM_006796.2:c.1989G>T , LRG_666t1:c.1989G>T (AFG3L2)	NP_006787.2:p.Gln663His
XM_011525601.1:c.1788G>T (AFG3L2)	XP_011523903.1:p.Gln596His
XM_011525601.3:c.1788G>T (AFG3L2)	XP_011523903.1:p.Gln596His
XR_002958227.1:n.451+625C>A
NM_006796.3:c.1989G>T (AFG3L2) MANE Select	NP_006787.2:p.Gln663His