Canonical Allele Identifier: CA8896421

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12344199A>C , CM000680.2:g.12344199A>C	GRCh38
NC_000018.9:g.12344198A>C , CM000680.1:g.12344198A>C	GRCh37
NC_000018.8:g.12334198A>C	NCBI36
NG_023361.1:g.38078T>G , LRG_666:g.38078T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1712T>G (AFG3L2) MANE Select	NP_006787.2:p.Val571Gly
ENST00000269143.8:c.1712T>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Val571Gly
NM_006796.2:c.1712T>G , LRG_666t1:c.1712T>G (AFG3L2)	NP_006787.2:p.Val571Gly
ENST00000269143.7:c.1712T>G (AFG3L2)	ENSP00000269143.2:p.Val571Gly
ENST00000586691.1:c.238A>C (TUBB6)
ENST00000588893.1:n.105T>G (AFG3L2)
ENST00000683671.1:n.198T>G (AFG3L2)
ENST00000687337.1:c.*1308T>G (AFG3L2)	ENSP00000508998.1:n.*1308T>G
ENST00000688199.1:c.1574T>G (AFG3L2)	ENSP00000510237.1:p.Val525Gly
ENST00000691179.1:c.1637T>G (AFG3L2)	ENSP00000509010.1:p.Val546Gly
ENST00000691970.1:c.*1089T>G (AFG3L2)	ENSP00000508440.1:n.*1089T>G
ENST00000692497.1:c.*142T>G (AFG3L2)	ENSP00000509870.1:n.*142T>G
ENST00000692988.1:n.1530T>G (AFG3L2)
XM_011525601.1:c.1712T>G (AFG3L2)	XP_011523903.1:p.Val571Gly
XM_011525601.3:c.1712T>G (AFG3L2)	XP_011523903.1:p.Val571Gly
XR_001753363.1:n.566A>C
XR_002958227.1:n.602A>C