Canonical Allele Identifier: CA342731

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 30423
• ClinVar RCV Id: RCV000023376 ; RCV000992830 ; RCV002490407
• dbSNP Id: rs151344514
• gnomAD v4: 18-12337520-T-C
• MyVariant Identifiers: chr18:g.12337519T>C (hg19) ; chr18:g.12337520T>C (hg38)
• PubMed: PMID:20725928 ; PMID:21595125

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337520T>C , CM000680.2:g.12337520T>C	GRCh38
NC_000018.9:g.12337519T>C , CM000680.1:g.12337519T>C	GRCh37
NC_000018.8:g.12327519T>C	NCBI36
NG_023361.1:g.44757A>G , LRG_666:g.44757A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1592A>G (AFG3L2)	ENSP00000508998.1:n.*1592A>G
ENST00000687477.1:n.532A>G (AFG3L2)
ENST00000688199.1:c.1858A>G (AFG3L2)	ENSP00000510237.1:p.Met620Val
ENST00000691179.1:c.1921A>G (AFG3L2)	ENSP00000509010.1:p.Met641Val
ENST00000691970.1:c.*1373A>G (AFG3L2)	ENSP00000508440.1:n.*1373A>G
ENST00000692497.1:c.*426A>G (AFG3L2)	ENSP00000509870.1:n.*426A>G
ENST00000692988.1:n.1814A>G (AFG3L2)
ENST00000269143.8:c.1996A>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Met666Val
ENST00000269143.7:c.1996A>G (AFG3L2)	ENSP00000269143.2:p.Met666Val
ENST00000586691.1:c.88-6529T>C (TUBB6)
NM_006796.2:c.1996A>G , LRG_666t1:c.1996A>G (AFG3L2)	NP_006787.2:p.Met666Val
XM_011525601.1:c.1795A>G (AFG3L2)	XP_011523903.1:p.Met599Val
XM_011525601.3:c.1795A>G (AFG3L2)	XP_011523903.1:p.Met599Val
XR_002958227.1:n.451+618T>C
NM_006796.3:c.1996A>G (AFG3L2) MANE Select	NP_006787.2:p.Met666Val