Canonical Allele Identifier: CA343036

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 38393
• ClinVar RCV Id: RCV000031947 ; RCV001207352
• dbSNP Id: rs151344522
• MyVariant Identifiers: chr18:g.12337417C>T (hg19) ; chr18:g.12337418C>T (hg38)
• PubMed: PMID:21595125

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337418C>T , CM000680.2:g.12337418C>T	GRCh38
NC_000018.9:g.12337417C>T , CM000680.1:g.12337417C>T	GRCh37
NC_000018.8:g.12327417C>T	NCBI36
NG_023361.1:g.44859G>A , LRG_666:g.44859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1694G>A (AFG3L2)	ENSP00000508998.1:n.*1694G>A
ENST00000687477.1:n.634G>A (AFG3L2)
ENST00000688199.1:c.1960G>A (AFG3L2)	ENSP00000510237.1:p.Glu654Lys
ENST00000691179.1:c.2023G>A (AFG3L2)	ENSP00000509010.1:p.Glu675Lys
ENST00000691970.1:c.*1475G>A (AFG3L2)	ENSP00000508440.1:n.*1475G>A
ENST00000692497.1:c.*528G>A (AFG3L2)	ENSP00000509870.1:n.*528G>A
ENST00000692988.1:n.1916G>A (AFG3L2)
ENST00000269143.8:c.2098G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu700Lys
ENST00000269143.7:c.2098G>A (AFG3L2)	ENSP00000269143.2:p.Glu700Lys
ENST00000586691.1:c.88-6631C>T (TUBB6)
NM_006796.2:c.2098G>A , LRG_666t1:c.2098G>A (AFG3L2)	NP_006787.2:p.Glu700Lys
XM_011525601.1:c.1897G>A (AFG3L2)	XP_011523903.1:p.Glu633Lys
XM_011525601.3:c.1897G>A (AFG3L2)	XP_011523903.1:p.Glu633Lys
XR_002958227.1:n.451+516C>T
NM_006796.3:c.2098G>A (AFG3L2) MANE Select	NP_006787.2:p.Glu700Lys