Canonical Allele Identifier: CA340419

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 5470
• ClinVar RCV Id: RCV000005804
• dbSNP Id: rs151344520
• MyVariant Identifiers: chr18:g.12337444C>T (hg19) ; chr18:g.12337445C>T (hg38)
• PubMed: PMID:16251216 ; PMID:20208537 ; PMID:21595125

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337445C>T , CM000680.2:g.12337445C>T	GRCh38
NC_000018.9:g.12337444C>T , CM000680.1:g.12337444C>T	GRCh37
NC_000018.8:g.12327444C>T	NCBI36
NG_023361.1:g.44832G>A , LRG_666:g.44832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1667G>A (AFG3L2)	ENSP00000508998.1:n.*1667G>A
ENST00000687477.1:n.607G>A (AFG3L2)
ENST00000688199.1:c.1933G>A (AFG3L2)	ENSP00000510237.1:p.Glu645Lys
ENST00000691179.1:c.1996G>A (AFG3L2)	ENSP00000509010.1:p.Glu666Lys
ENST00000691970.1:c.*1448G>A (AFG3L2)	ENSP00000508440.1:n.*1448G>A
ENST00000692497.1:c.*501G>A (AFG3L2)	ENSP00000509870.1:n.*501G>A
ENST00000692988.1:n.1889G>A (AFG3L2)
ENST00000269143.8:c.2071G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu691Lys
ENST00000269143.7:c.2071G>A (AFG3L2)	ENSP00000269143.2:p.Glu691Lys
ENST00000586691.1:c.88-6604C>T (TUBB6)
NM_006796.2:c.2071G>A , LRG_666t1:c.2071G>A (AFG3L2)	NP_006787.2:p.Glu691Lys
XM_011525601.1:c.1870G>A (AFG3L2)	XP_011523903.1:p.Glu624Lys
XM_011525601.3:c.1870G>A (AFG3L2)	XP_011523903.1:p.Glu624Lys
XR_002958227.1:n.451+543C>T
NM_006796.3:c.2071G>A (AFG3L2) MANE Select	NP_006787.2:p.Glu691Lys