Canonical Allele Identifier: CA342733

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 30424
• ClinVar RCV Id: RCV000023377
• dbSNP Id: rs151344515
• MyVariant Identifiers: chr18:g.12337518A>C (hg19) ; chr18:g.12337519A>C (hg38)
• PubMed: PMID:20725928 ; PMID:21595125

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337519A>C , CM000680.2:g.12337519A>C	GRCh38
NC_000018.9:g.12337518A>C , CM000680.1:g.12337518A>C	GRCh37
NC_000018.8:g.12327518A>C	NCBI36
NG_023361.1:g.44758T>G , LRG_666:g.44758T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1593T>G (AFG3L2)	ENSP00000508998.1:n.*1593T>G
ENST00000687477.1:n.533T>G (AFG3L2)
ENST00000688199.1:c.1859T>G (AFG3L2)	ENSP00000510237.1:p.Met620Arg
ENST00000691179.1:c.1922T>G (AFG3L2)	ENSP00000509010.1:p.Met641Arg
ENST00000691970.1:c.*1374T>G (AFG3L2)	ENSP00000508440.1:n.*1374T>G
ENST00000692497.1:c.*427T>G (AFG3L2)	ENSP00000509870.1:n.*427T>G
ENST00000692988.1:n.1815T>G (AFG3L2)
ENST00000269143.8:c.1997T>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Met666Arg
ENST00000269143.7:c.1997T>G (AFG3L2)	ENSP00000269143.2:p.Met666Arg
ENST00000586691.1:c.88-6530A>C (TUBB6)
NM_006796.2:c.1997T>G , LRG_666t1:c.1997T>G (AFG3L2)	NP_006787.2:p.Met666Arg
XM_011525601.1:c.1796T>G (AFG3L2)	XP_011523903.1:p.Met599Arg
XM_011525601.3:c.1796T>G (AFG3L2)	XP_011523903.1:p.Met599Arg
XR_002958227.1:n.451+617A>C
NM_006796.3:c.1997T>G (AFG3L2) MANE Select	NP_006787.2:p.Met666Arg