Canonical Allele Identifier: CA401944250

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337492A>G (hg19) ; chr18:g.12337493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337493A>G , CM000680.2:g.12337493A>G	GRCh38
NC_000018.9:g.12337492A>G , CM000680.1:g.12337492A>G	GRCh37
NC_000018.8:g.12327492A>G	NCBI36
NG_023361.1:g.44784T>C , LRG_666:g.44784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1619T>C (AFG3L2)	ENSP00000508998.1:n.*1619T>C
ENST00000687477.1:n.559T>C (AFG3L2)
ENST00000688199.1:c.1885T>C (AFG3L2)	ENSP00000510237.1:p.Phe629Leu
ENST00000691179.1:c.1948T>C (AFG3L2)	ENSP00000509010.1:p.Phe650Leu
ENST00000691970.1:c.*1400T>C (AFG3L2)	ENSP00000508440.1:n.*1400T>C
ENST00000692497.1:c.*453T>C (AFG3L2)	ENSP00000509870.1:n.*453T>C
ENST00000692988.1:n.1841T>C (AFG3L2)
ENST00000269143.8:c.2023T>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Phe675Leu
ENST00000269143.7:c.2023T>C (AFG3L2)	ENSP00000269143.2:p.Phe675Leu
ENST00000586691.1:c.88-6556A>G (TUBB6)
NM_006796.2:c.2023T>C , LRG_666t1:c.2023T>C (AFG3L2)	NP_006787.2:p.Phe675Leu
XM_011525601.1:c.1822T>C (AFG3L2)	XP_011523903.1:p.Phe608Leu
XM_011525601.3:c.1822T>C (AFG3L2)	XP_011523903.1:p.Phe608Leu
XR_002958227.1:n.451+591A>G
NM_006796.3:c.2023T>C (AFG3L2) MANE Select	NP_006787.2:p.Phe675Leu