Canonical Allele Identifier: CA401944393

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 2014169
• ClinVar RCV Id: RCV002829903
• MyVariant Identifiers: chr18:g.12337522C>G (hg19) ; chr18:g.12337523C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337523C>G , CM000680.2:g.12337523C>G	GRCh38
NC_000018.9:g.12337522C>G , CM000680.1:g.12337522C>G	GRCh37
NC_000018.8:g.12327522C>G	NCBI36
NG_023361.1:g.44754G>C , LRG_666:g.44754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1589G>C (AFG3L2)	ENSP00000508998.1:n.*1589G>C
ENST00000687477.1:n.529G>C (AFG3L2)
ENST00000688199.1:c.1855G>C (AFG3L2)	ENSP00000510237.1:p.Gly619Arg
ENST00000691179.1:c.1918G>C (AFG3L2)	ENSP00000509010.1:p.Gly640Arg
ENST00000691970.1:c.*1370G>C (AFG3L2)	ENSP00000508440.1:n.*1370G>C
ENST00000692497.1:c.*423G>C (AFG3L2)	ENSP00000509870.1:n.*423G>C
ENST00000692988.1:n.1811G>C (AFG3L2)
ENST00000269143.8:c.1993G>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Gly665Arg
ENST00000269143.7:c.1993G>C (AFG3L2)	ENSP00000269143.2:p.Gly665Arg
ENST00000586691.1:c.88-6526C>G (TUBB6)
NM_006796.2:c.1993G>C , LRG_666t1:c.1993G>C (AFG3L2)	NP_006787.2:p.Gly665Arg
XM_011525601.1:c.1792G>C (AFG3L2)	XP_011523903.1:p.Gly598Arg
XM_011525601.3:c.1792G>C (AFG3L2)	XP_011523903.1:p.Gly598Arg
XR_002958227.1:n.451+621C>G
NM_006796.3:c.1993G>C (AFG3L2) MANE Select	NP_006787.2:p.Gly665Arg