Canonical Allele Identifier: CA503244722

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337385T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337386T>C , CM000680.2:g.12337386T>C	GRCh38
NC_000018.9:g.12337385T>C , CM000680.1:g.12337385T>C	GRCh37
NC_000018.8:g.12327385T>C	NCBI36
NG_023361.1:g.44891A>G , LRG_666:g.44891A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1726A>G (AFG3L2)	ENSP00000508998.1:n.*1726A>G
ENST00000687477.1:n.666A>G (AFG3L2)
ENST00000688199.1:c.1992A>G (AFG3L2)	ENSP00000510237.1:p.Lys664=
ENST00000691179.1:c.2055A>G (AFG3L2)	ENSP00000509010.1:p.Lys685=
ENST00000691970.1:c.*1507A>G (AFG3L2)	ENSP00000508440.1:n.*1507A>G
ENST00000692497.1:c.*560A>G (AFG3L2)	ENSP00000509870.1:n.*560A>G
ENST00000692988.1:n.1948A>G (AFG3L2)
ENST00000269143.8:c.2130A>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys710=
ENST00000269143.7:c.2130A>G (AFG3L2)	ENSP00000269143.2:p.Lys710=
ENST00000586691.1:c.88-6663T>C (TUBB6)
NM_006796.2:c.2130A>G , LRG_666t1:c.2130A>G (AFG3L2)	NP_006787.2:p.Lys710=
XM_011525601.1:c.1929A>G (AFG3L2)	XP_011523903.1:p.Lys643=
XM_011525601.3:c.1929A>G (AFG3L2)	XP_011523903.1:p.Lys643=
XR_002958227.1:n.451+484T>C
NM_006796.3:c.2130A>G (AFG3L2) MANE Select	NP_006787.2:p.Lys710=