Canonical Allele Identifier: CA502964540

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337512-T-C
• MyVariant Identifiers: chr18:g.12337511T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337512T>C , CM000680.2:g.12337512T>C	GRCh38
NC_000018.9:g.12337511T>C , CM000680.1:g.12337511T>C	GRCh37
NC_000018.8:g.12327511T>C	NCBI36
NG_023361.1:g.44765A>G , LRG_666:g.44765A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1600A>G (AFG3L2)	ENSP00000508998.1:n.*1600A>G
ENST00000687477.1:n.540A>G (AFG3L2)
ENST00000688199.1:c.1866A>G (AFG3L2)	ENSP00000510237.1:p.Glu622=
ENST00000691179.1:c.1929A>G (AFG3L2)	ENSP00000509010.1:p.Glu643=
ENST00000691970.1:c.*1381A>G (AFG3L2)	ENSP00000508440.1:n.*1381A>G
ENST00000692497.1:c.*434A>G (AFG3L2)	ENSP00000509870.1:n.*434A>G
ENST00000692988.1:n.1822A>G (AFG3L2)
ENST00000269143.8:c.2004A>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu668=
ENST00000269143.7:c.2004A>G (AFG3L2)	ENSP00000269143.2:p.Glu668=
ENST00000586691.1:c.88-6537T>C (TUBB6)
NM_006796.2:c.2004A>G , LRG_666t1:c.2004A>G (AFG3L2)	NP_006787.2:p.Glu668=
XM_011525601.1:c.1803A>G (AFG3L2)	XP_011523903.1:p.Glu601=
XM_011525601.3:c.1803A>G (AFG3L2)	XP_011523903.1:p.Glu601=
XR_002958227.1:n.451+610T>C
NM_006796.3:c.2004A>G (AFG3L2) MANE Select	NP_006787.2:p.Glu668=