Canonical Allele Identifier: CA16043984

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 374935
• ClinVar RCV Id: RCV000415684
• dbSNP Id: rs764254189
• MyVariant Identifiers: chr18:g.12340229T>C (hg19) ; chr18:g.12340230T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340230T>C , CM000680.2:g.12340230T>C	GRCh38
NC_000018.9:g.12340229T>C , CM000680.1:g.12340229T>C	GRCh37
NC_000018.8:g.12330229T>C	NCBI36
NG_023361.1:g.42047A>G , LRG_666:g.42047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1547A>G (AFG3L2)	ENSP00000508998.1:n.*1547A>G
ENST00000687477.1:n.487A>G (AFG3L2)
ENST00000688199.1:c.1813A>G (AFG3L2)	ENSP00000510237.1:p.Arg605Gly
ENST00000691179.1:c.1876A>G (AFG3L2)	ENSP00000509010.1:p.Arg626Gly
ENST00000691970.1:c.*1328A>G (AFG3L2)	ENSP00000508440.1:n.*1328A>G
ENST00000692497.1:c.*381A>G (AFG3L2)	ENSP00000509870.1:n.*381A>G
ENST00000692988.1:n.1769A>G (AFG3L2)
ENST00000269143.8:c.1951A>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Arg651Gly
ENST00000269143.7:c.1951A>G (AFG3L2)	ENSP00000269143.2:p.Arg651Gly
ENST00000586691.1:c.88-3819T>C (TUBB6)
NM_006796.2:c.1951A>G , LRG_666t1:c.1951A>G (AFG3L2)	NP_006787.2:p.Arg651Gly
XM_011525601.1:c.1780-2695A>G (AFG3L2)	XP_011523903.1:n.1780-2695A>G
XM_011525601.3:c.1780-2695A>G (AFG3L2)	XP_011523903.1:n.1780-2695A>G
XR_001753363.1:n.415+1650T>C
XR_002958227.1:n.451+3328T>C
NM_006796.3:c.1951A>G (AFG3L2) MANE Select	NP_006787.2:p.Arg651Gly