Canonical Allele Identifier: CA16608709

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340401C>T , CM000680.2:g.12340401C>T	GRCh38
NC_000018.9:g.12340400C>T , CM000680.1:g.12340400C>T	GRCh37
NC_000018.8:g.12330400C>T	NCBI36
NG_023361.1:g.41876G>A , LRG_666:g.41876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1376G>A (AFG3L2)	ENSP00000508998.1:n.*1376G>A
ENST00000687477.1:n.316G>A (AFG3L2)
ENST00000688199.1:c.1642G>A (AFG3L2)	ENSP00000510237.1:p.Val548Ile
ENST00000691179.1:c.1705G>A (AFG3L2)	ENSP00000509010.1:p.Val569Ile
ENST00000691970.1:c.*1157G>A (AFG3L2)	ENSP00000508440.1:n.*1157G>A
ENST00000692497.1:c.*210G>A (AFG3L2)	ENSP00000509870.1:n.*210G>A
ENST00000692988.1:n.1598G>A (AFG3L2)
ENST00000269143.8:c.1780G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Val594Ile
ENST00000269143.7:c.1780G>A (AFG3L2)	ENSP00000269143.2:p.Val594Ile
ENST00000586691.1:c.88-3648C>T (TUBB6)
NM_006796.2:c.1780G>A , LRG_666t1:c.1780G>A (AFG3L2)	NP_006787.2:p.Val594Ile
XM_011525601.1:c.1780-2866G>A (AFG3L2)	XP_011523903.1:n.1780-2866G>A
XM_011525601.3:c.1780-2866G>A (AFG3L2)	XP_011523903.1:n.1780-2866G>A
XR_001753363.1:n.415+1821C>T
XR_002958227.1:n.451+3499C>T
NM_006796.3:c.1780G>A (AFG3L2) MANE Select	NP_006787.2:p.Val594Ile