Canonical Allele Identifier: CA503244729

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337391A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337392A>G , CM000680.2:g.12337392A>G	GRCh38
NC_000018.9:g.12337391A>G , CM000680.1:g.12337391A>G	GRCh37
NC_000018.8:g.12327391A>G	NCBI36
NG_023361.1:g.44885T>C , LRG_666:g.44885T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1720T>C (AFG3L2)	ENSP00000508998.1:n.*1720T>C
ENST00000687477.1:n.660T>C (AFG3L2)
ENST00000688199.1:c.1986T>C (AFG3L2)	ENSP00000510237.1:p.Ala662=
ENST00000691179.1:c.2049T>C (AFG3L2)	ENSP00000509010.1:p.Ala683=
ENST00000691970.1:c.*1501T>C (AFG3L2)	ENSP00000508440.1:n.*1501T>C
ENST00000692497.1:c.*554T>C (AFG3L2)	ENSP00000509870.1:n.*554T>C
ENST00000692988.1:n.1942T>C (AFG3L2)
ENST00000269143.8:c.2124T>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Ala708=
ENST00000269143.7:c.2124T>C (AFG3L2)	ENSP00000269143.2:p.Ala708=
ENST00000586691.1:c.88-6657A>G (TUBB6)
NM_006796.2:c.2124T>C , LRG_666t1:c.2124T>C (AFG3L2)	NP_006787.2:p.Ala708=
XM_011525601.1:c.1923T>C (AFG3L2)	XP_011523903.1:p.Ala641=
XM_011525601.3:c.1923T>C (AFG3L2)	XP_011523903.1:p.Ala641=
XR_002958227.1:n.451+490A>G
NM_006796.3:c.2124T>C (AFG3L2) MANE Select	NP_006787.2:p.Ala708=