Canonical Allele Identifier: CA401944420

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337527T>C (hg19) ; chr18:g.12337528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337528T>C , CM000680.2:g.12337528T>C	GRCh38
NC_000018.9:g.12337527T>C , CM000680.1:g.12337527T>C	GRCh37
NC_000018.8:g.12327527T>C	NCBI36
NG_023361.1:g.44749A>G , LRG_666:g.44749A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1584A>G (AFG3L2)	ENSP00000508998.1:n.*1584A>G
ENST00000687477.1:n.524A>G (AFG3L2)
ENST00000688199.1:c.1850A>G (AFG3L2)	ENSP00000510237.1:p.Gln617Arg
ENST00000691179.1:c.1913A>G (AFG3L2)	ENSP00000509010.1:p.Gln638Arg
ENST00000691970.1:c.*1365A>G (AFG3L2)	ENSP00000508440.1:n.*1365A>G
ENST00000692497.1:c.*418A>G (AFG3L2)	ENSP00000509870.1:n.*418A>G
ENST00000692988.1:n.1806A>G (AFG3L2)
ENST00000269143.8:c.1988A>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln663Arg
ENST00000269143.7:c.1988A>G (AFG3L2)	ENSP00000269143.2:p.Gln663Arg
ENST00000586691.1:c.88-6521T>C (TUBB6)
NM_006796.2:c.1988A>G , LRG_666t1:c.1988A>G (AFG3L2)	NP_006787.2:p.Gln663Arg
XM_011525601.1:c.1787A>G (AFG3L2)	XP_011523903.1:p.Gln596Arg
XM_011525601.3:c.1787A>G (AFG3L2)	XP_011523903.1:p.Gln596Arg
XR_002958227.1:n.451+626T>C
NM_006796.3:c.1988A>G (AFG3L2) MANE Select	NP_006787.2:p.Gln663Arg