Canonical Allele Identifier: CA8896318

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs369024207
• ExAC: 18:12337473 C / T
• gnomAD v2: 18-12337473-C-T
• gnomAD v4: 18-12337474-C-T
• MyVariant Identifiers: chr18:g.12337473C>T (hg19) ; chr18:g.12337474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337474C>T , CM000680.2:g.12337474C>T	GRCh38
NC_000018.9:g.12337473C>T , CM000680.1:g.12337473C>T	GRCh37
NC_000018.8:g.12327473C>T	NCBI36
NG_023361.1:g.44803G>A , LRG_666:g.44803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1638G>A (AFG3L2)	ENSP00000508998.1:n.*1638G>A
ENST00000687477.1:n.578G>A (AFG3L2)
ENST00000688199.1:c.1904G>A (AFG3L2)	ENSP00000510237.1:p.Gly635Glu
ENST00000691179.1:c.1967G>A (AFG3L2)	ENSP00000509010.1:p.Gly656Glu
ENST00000691970.1:c.*1419G>A (AFG3L2)	ENSP00000508440.1:n.*1419G>A
ENST00000692497.1:c.*472G>A (AFG3L2)	ENSP00000509870.1:n.*472G>A
ENST00000692988.1:n.1860G>A (AFG3L2)
ENST00000269143.8:c.2042G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Gly681Glu
ENST00000269143.7:c.2042G>A (AFG3L2)	ENSP00000269143.2:p.Gly681Glu
ENST00000586691.1:c.88-6575C>T (TUBB6)
NM_006796.2:c.2042G>A , LRG_666t1:c.2042G>A (AFG3L2)	NP_006787.2:p.Gly681Glu
XM_011525601.1:c.1841G>A (AFG3L2)	XP_011523903.1:p.Gly614Glu
XM_011525601.3:c.1841G>A (AFG3L2)	XP_011523903.1:p.Gly614Glu
XR_002958227.1:n.451+572C>T
NM_006796.3:c.2042G>A (AFG3L2) MANE Select	NP_006787.2:p.Gly681Glu