Canonical Allele Identifier: CA401944245

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337491A>T (hg19) ; chr18:g.12337492A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337492A>T , CM000680.2:g.12337492A>T	GRCh38
NC_000018.9:g.12337491A>T , CM000680.1:g.12337491A>T	GRCh37
NC_000018.8:g.12327491A>T	NCBI36
NG_023361.1:g.44785T>A , LRG_666:g.44785T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1620T>A (AFG3L2)	ENSP00000508998.1:n.*1620T>A
ENST00000687477.1:n.560T>A (AFG3L2)
ENST00000688199.1:c.1886T>A (AFG3L2)	ENSP00000510237.1:p.Phe629Tyr
ENST00000691179.1:c.1949T>A (AFG3L2)	ENSP00000509010.1:p.Phe650Tyr
ENST00000691970.1:c.*1401T>A (AFG3L2)	ENSP00000508440.1:n.*1401T>A
ENST00000692497.1:c.*454T>A (AFG3L2)	ENSP00000509870.1:n.*454T>A
ENST00000692988.1:n.1842T>A (AFG3L2)
ENST00000269143.8:c.2024T>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Phe675Tyr
ENST00000269143.7:c.2024T>A (AFG3L2)	ENSP00000269143.2:p.Phe675Tyr
ENST00000586691.1:c.88-6557A>T (TUBB6)
NM_006796.2:c.2024T>A , LRG_666t1:c.2024T>A (AFG3L2)	NP_006787.2:p.Phe675Tyr
XM_011525601.1:c.1823T>A (AFG3L2)	XP_011523903.1:p.Phe608Tyr
XM_011525601.3:c.1823T>A (AFG3L2)	XP_011523903.1:p.Phe608Tyr
XR_002958227.1:n.451+590A>T
NM_006796.3:c.2024T>A (AFG3L2) MANE Select	NP_006787.2:p.Phe675Tyr