Canonical Allele Identifier: CA401943745

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337387-T-G
• MyVariant Identifiers: chr18:g.12337386T>G (hg19) ; chr18:g.12337387T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337387T>G , CM000680.2:g.12337387T>G	GRCh38
NC_000018.9:g.12337386T>G , CM000680.1:g.12337386T>G	GRCh37
NC_000018.8:g.12327386T>G	NCBI36
NG_023361.1:g.44890A>C , LRG_666:g.44890A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1725A>C (AFG3L2)	ENSP00000508998.1:n.*1725A>C
ENST00000687477.1:n.665A>C (AFG3L2)
ENST00000688199.1:c.1991A>C (AFG3L2)	ENSP00000510237.1:p.Lys664Thr
ENST00000691179.1:c.2054A>C (AFG3L2)	ENSP00000509010.1:p.Lys685Thr
ENST00000691970.1:c.*1506A>C (AFG3L2)	ENSP00000508440.1:n.*1506A>C
ENST00000692497.1:c.*559A>C (AFG3L2)	ENSP00000509870.1:n.*559A>C
ENST00000692988.1:n.1947A>C (AFG3L2)
ENST00000269143.8:c.2129A>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys710Thr
ENST00000269143.7:c.2129A>C (AFG3L2)	ENSP00000269143.2:p.Lys710Thr
ENST00000586691.1:c.88-6662T>G (TUBB6)
NM_006796.2:c.2129A>C , LRG_666t1:c.2129A>C (AFG3L2)	NP_006787.2:p.Lys710Thr
XM_011525601.1:c.1928A>C (AFG3L2)	XP_011523903.1:p.Lys643Thr
XM_011525601.3:c.1928A>C (AFG3L2)	XP_011523903.1:p.Lys643Thr
XR_002958227.1:n.451+485T>G
NM_006796.3:c.2129A>C (AFG3L2) MANE Select	NP_006787.2:p.Lys710Thr