Canonical Allele Identifier: CA8896304

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 2058030
• ClinVar RCV Id: RCV002928376
• dbSNP Id: rs771747701
• ExAC: 18:12337386 T / A
• gnomAD v2: 18-12337386-T-A
• gnomAD v3: 18-12337387-T-A
• gnomAD v4: 18-12337387-T-A
• MyVariant Identifiers: chr18:g.12337386T>A (hg19) ; chr18:g.12337387T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337387T>A , CM000680.2:g.12337387T>A	GRCh38
NC_000018.9:g.12337386T>A , CM000680.1:g.12337386T>A	GRCh37
NC_000018.8:g.12327386T>A	NCBI36
NG_023361.1:g.44890A>T , LRG_666:g.44890A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1725A>T (AFG3L2)	ENSP00000508998.1:n.*1725A>T
ENST00000687477.1:n.665A>T (AFG3L2)
ENST00000688199.1:c.1991A>T (AFG3L2)	ENSP00000510237.1:p.Lys664Ile
ENST00000691179.1:c.2054A>T (AFG3L2)	ENSP00000509010.1:p.Lys685Ile
ENST00000691970.1:c.*1506A>T (AFG3L2)	ENSP00000508440.1:n.*1506A>T
ENST00000692497.1:c.*559A>T (AFG3L2)	ENSP00000509870.1:n.*559A>T
ENST00000692988.1:n.1947A>T (AFG3L2)
ENST00000269143.8:c.2129A>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys710Ile
ENST00000269143.7:c.2129A>T (AFG3L2)	ENSP00000269143.2:p.Lys710Ile
ENST00000586691.1:c.88-6662T>A (TUBB6)
NM_006796.2:c.2129A>T , LRG_666t1:c.2129A>T (AFG3L2)	NP_006787.2:p.Lys710Ile
XM_011525601.1:c.1928A>T (AFG3L2)	XP_011523903.1:p.Lys643Ile
XM_011525601.3:c.1928A>T (AFG3L2)	XP_011523903.1:p.Lys643Ile
XR_002958227.1:n.451+485T>A
NM_006796.3:c.2129A>T (AFG3L2) MANE Select	NP_006787.2:p.Lys710Ile