Canonical Allele Identifier: CA319947

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 214062
• ClinVar RCV Id: RCV000195592 ; RCV001122821 ; RCV001640293 ; RCV001640294 ; RCV003224221 ; RCV002517193
• dbSNP Id: rs139469785
• ExAC: 18:12337348 C / T
• gnomAD v2: 18-12337348-C-T
• gnomAD v3: 18-12337349-C-T
• gnomAD v4: 18-12337349-C-T
• MyVariant Identifiers: chr18:g.12337348C>T (hg19) ; chr18:g.12337349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337349C>T , CM000680.2:g.12337349C>T	GRCh38
NC_000018.9:g.12337348C>T , CM000680.1:g.12337348C>T	GRCh37
NC_000018.8:g.12327348C>T	NCBI36
NG_023361.1:g.44928G>A , LRG_666:g.44928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1763G>A (AFG3L2)	ENSP00000508998.1:n.*1763G>A
ENST00000687477.1:n.703G>A (AFG3L2)
ENST00000688199.1:c.2029G>A (AFG3L2)	ENSP00000510237.1:p.Val677Met
ENST00000691179.1:c.2092G>A (AFG3L2)	ENSP00000509010.1:p.Val698Met
ENST00000691970.1:c.*1544G>A (AFG3L2)	ENSP00000508440.1:n.*1544G>A
ENST00000692497.1:c.*597G>A (AFG3L2)	ENSP00000509870.1:n.*597G>A
ENST00000692988.1:n.1985G>A (AFG3L2)
ENST00000269143.8:c.2167G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Val723Met
ENST00000269143.7:c.2167G>A (AFG3L2)	ENSP00000269143.2:p.Val723Met
ENST00000586691.1:c.88-6700C>T (TUBB6)
NM_006796.2:c.2167G>A , LRG_666t1:c.2167G>A (AFG3L2)	NP_006787.2:p.Val723Met
XM_011525601.1:c.1966G>A (AFG3L2)	XP_011523903.1:p.Val656Met
XM_011525601.3:c.1966G>A (AFG3L2)	XP_011523903.1:p.Val656Met
XR_002958227.1:n.451+447C>T
NM_006796.3:c.2167G>A (AFG3L2) MANE Select	NP_006787.2:p.Val723Met