Canonical Allele Identifier: CA401944352

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337514-C-T
• MyVariant Identifiers: chr18:g.12337513C>T (hg19) ; chr18:g.12337514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337514C>T , CM000680.2:g.12337514C>T	GRCh38
NC_000018.9:g.12337513C>T , CM000680.1:g.12337513C>T	GRCh37
NC_000018.8:g.12327513C>T	NCBI36
NG_023361.1:g.44763G>A , LRG_666:g.44763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1598G>A (AFG3L2)	ENSP00000508998.1:n.*1598G>A
ENST00000687477.1:n.538G>A (AFG3L2)
ENST00000688199.1:c.1864G>A (AFG3L2)	ENSP00000510237.1:p.Glu622Lys
ENST00000691179.1:c.1927G>A (AFG3L2)	ENSP00000509010.1:p.Glu643Lys
ENST00000691970.1:c.*1379G>A (AFG3L2)	ENSP00000508440.1:n.*1379G>A
ENST00000692497.1:c.*432G>A (AFG3L2)	ENSP00000509870.1:n.*432G>A
ENST00000692988.1:n.1820G>A (AFG3L2)
ENST00000269143.8:c.2002G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu668Lys
ENST00000269143.7:c.2002G>A (AFG3L2)	ENSP00000269143.2:p.Glu668Lys
ENST00000586691.1:c.88-6535C>T (TUBB6)
NM_006796.2:c.2002G>A , LRG_666t1:c.2002G>A (AFG3L2)	NP_006787.2:p.Glu668Lys
XM_011525601.1:c.1801G>A (AFG3L2)	XP_011523903.1:p.Glu601Lys
XM_011525601.3:c.1801G>A (AFG3L2)	XP_011523903.1:p.Glu601Lys
XR_002958227.1:n.451+612C>T
NM_006796.3:c.2002G>A (AFG3L2) MANE Select	NP_006787.2:p.Glu668Lys