Canonical Allele Identifier: CA502965078

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12351338T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351339T>G , CM000680.2:g.12351339T>G	GRCh38
NC_000018.9:g.12351338T>G , CM000680.1:g.12351338T>G	GRCh37
NC_000018.8:g.12341338T>G	NCBI36
NG_023361.1:g.30938A>C , LRG_666:g.30938A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*989A>C	ENSP00000508998.1:n.*989A>C
ENST00000688199.1:c.1255A>C	ENSP00000510237.1:p.Arg419=
ENST00000691179.1:c.1318A>C	ENSP00000509010.1:p.Arg440=
ENST00000691970.1:c.*770A>C	ENSP00000508440.1:n.*770A>C
ENST00000692497.1:c.1393A>C	ENSP00000509870.1:p.Arg465=
ENST00000692988.1:n.1211A>C
ENST00000269143.8:c.1393A>C MANE Select	ENSP00000269143.2:p.Arg465=
ENST00000269143.7:c.1393A>C	ENSP00000269143.2:p.Arg465=
NM_006796.2:c.1393A>C , LRG_666t1:c.1393A>C	NP_006787.2:p.Arg465=
XM_011525601.1:c.1393A>C	XP_011523903.1:p.Arg465=
XM_011525601.3:c.1393A>C	XP_011523903.1:p.Arg465=
NM_006796.3:c.1393A>C MANE Select	NP_006787.2:p.Arg465=