Canonical Allele Identifier: CA8896206

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12329537C>G , CM000680.2:g.12329537C>G	GRCh38
NC_000018.9:g.12329536C>G , CM000680.1:g.12329536C>G	GRCh37
NC_000018.8:g.12319536C>G	NCBI36
NG_023361.1:g.52740G>C , LRG_666:g.52740G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.*28G>C (AFG3L2) MANE Select	NP_006787.2:n.*28G>C
ENST00000269143.8:c.*28G>C (AFG3L2) MANE Select	ENSP00000269143.2:n.*28G>C
NM_001303525.1:c.*354C>G (TUBB6)	NP_001290454.1:n.*354C>G
NM_001303525.2:c.*354C>G (TUBB6)	NP_001290454.1:n.*354C>G
NM_006796.2:c.*28G>C , LRG_666t1:c.*28G>C (AFG3L2)	NP_006787.2:n.*28G>C
ENST00000269143.7:c.*28G>C (AFG3L2)	ENSP00000269143.2:n.*28G>C
ENST00000586691.1:c.88-14512C>G (TUBB6)
ENST00000590967.5:c.278-7576C>G (TUBB6)	ENSP00000465386.1:n.278-7576C>G
ENST00000591909.5:c.*354C>G (TUBB6)	ENSP00000465040.1:n.*354C>G
ENST00000687337.1:c.*2018G>C (AFG3L2)	ENSP00000508998.1:n.*2018G>C
ENST00000687477.1:n.958G>C (AFG3L2)
ENST00000688199.1:c.*28G>C (AFG3L2)	ENSP00000510237.1:n.*28G>C
ENST00000691179.1:c.*28G>C (AFG3L2)	ENSP00000509010.1:n.*28G>C
ENST00000691970.1:c.*1799G>C (AFG3L2)	ENSP00000508440.1:n.*1799G>C
ENST00000692497.1:c.*852G>C (AFG3L2)	ENSP00000509870.1:n.*852G>C
ENST00000692988.1:n.2240G>C (AFG3L2)
XM_011525601.1:c.*28G>C (AFG3L2)	XP_011523903.1:n.*28G>C
XM_011525601.3:c.*28G>C (AFG3L2)	XP_011523903.1:n.*28G>C