Canonical Allele Identifier: CA2641067132

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12340108-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340108A>C , CM000680.2:g.12340108A>C	GRCh38
NC_000018.9:g.12340107A>C , CM000680.1:g.12340107A>C	GRCh37
NC_000018.8:g.12330107A>C	NCBI36
NG_023361.1:g.42169T>G , LRG_666:g.42169T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1576+93T>G (AFG3L2)	ENSP00000508998.1:n.*1576+93T>G
ENST00000687477.1:n.516+93T>G (AFG3L2)
ENST00000688199.1:c.1842+93T>G (AFG3L2)	ENSP00000510237.1:n.1842+93T>G
ENST00000691179.1:c.1905+93T>G (AFG3L2)	ENSP00000509010.1:n.1905+93T>G
ENST00000691970.1:c.*1357+93T>G (AFG3L2)	ENSP00000508440.1:n.*1357+93T>G
ENST00000692497.1:c.*410+93T>G (AFG3L2)	ENSP00000509870.1:n.*410+93T>G
ENST00000692988.1:n.1798+93T>G (AFG3L2)
ENST00000269143.8:c.1980+93T>G (AFG3L2) MANE Select	ENSP00000269143.2:n.1980+93T>G
ENST00000269143.7:c.1980+93T>G (AFG3L2)	ENSP00000269143.2:n.1980+93T>G
ENST00000586691.1:c.88-3941A>C (TUBB6)
NM_006796.2:c.1980+93T>G , LRG_666t1:c.1980+93T>G (AFG3L2)	NP_006787.2:n.1980+93T>G
XM_011525601.1:c.1780-2573T>G (AFG3L2)	XP_011523903.1:n.1780-2573T>G
XM_011525601.3:c.1780-2573T>G (AFG3L2)	XP_011523903.1:n.1780-2573T>G
XR_001753363.1:n.415+1528A>C
XR_002958227.1:n.451+3206A>C
NM_006796.3:c.1980+93T>G (AFG3L2) MANE Select	NP_006787.2:n.1980+93T>G