Canonical Allele Identifier: CA658799002

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340192T>G , CM000680.2:g.12340192T>G	GRCh38
NC_000018.9:g.12340191T>G , CM000680.1:g.12340191T>G	GRCh37
NC_000018.8:g.12330191T>G	NCBI36
NG_023361.1:g.42085A>C , LRG_666:g.42085A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1980+9A>C (AFG3L2) MANE Select	NP_006787.2:n.1980+9A>C
ENST00000269143.8:c.1980+9A>C (AFG3L2) MANE Select	ENSP00000269143.2:n.1980+9A>C
NM_006796.2:c.1980+9A>C , LRG_666t1:c.1980+9A>C (AFG3L2)	NP_006787.2:n.1980+9A>C
ENST00000269143.7:c.1980+9A>C (AFG3L2)	ENSP00000269143.2:n.1980+9A>C
ENST00000586691.1:c.88-3857T>G (TUBB6)
ENST00000687337.1:c.*1576+9A>C (AFG3L2)	ENSP00000508998.1:n.*1576+9A>C
ENST00000687477.1:n.516+9A>C (AFG3L2)
ENST00000688199.1:c.1842+9A>C (AFG3L2)	ENSP00000510237.1:n.1842+9A>C
ENST00000691179.1:c.1905+9A>C (AFG3L2)	ENSP00000509010.1:n.1905+9A>C
ENST00000691970.1:c.*1357+9A>C (AFG3L2)	ENSP00000508440.1:n.*1357+9A>C
ENST00000692497.1:c.*410+9A>C (AFG3L2)	ENSP00000509870.1:n.*410+9A>C
ENST00000692988.1:n.1798+9A>C (AFG3L2)
XM_011525601.1:c.1780-2657A>C (AFG3L2)	XP_011523903.1:n.1780-2657A>C
XM_011525601.3:c.1780-2657A>C (AFG3L2)	XP_011523903.1:n.1780-2657A>C
XR_001753363.1:n.415+1612T>G
XR_002958227.1:n.451+3290T>G