Canonical Allele Identifier: CA502964902

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12351109C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351110C>A , CM000680.2:g.12351110C>A	GRCh38
NC_000018.9:g.12351109C>A , CM000680.1:g.12351109C>A	GRCh37
NC_000018.8:g.12341109C>A	NCBI36
NG_023361.1:g.31167G>T , LRG_666:g.31167G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1123G>T	ENSP00000508998.1:n.*1123G>T
ENST00000688199.1:c.1389G>T	ENSP00000510237.1:p.Leu463=
ENST00000691179.1:c.1452G>T	ENSP00000509010.1:p.Leu484=
ENST00000691970.1:c.*904G>T	ENSP00000508440.1:n.*904G>T
ENST00000692497.1:c.1527G>T	ENSP00000509870.1:p.Leu509=
ENST00000692988.1:n.1345G>T
ENST00000269143.8:c.1527G>T MANE Select	ENSP00000269143.2:p.Leu509=
ENST00000269143.7:c.1527G>T	ENSP00000269143.2:p.Leu509=
NM_006796.2:c.1527G>T , LRG_666t1:c.1527G>T	NP_006787.2:p.Leu509=
XM_011525601.1:c.1527G>T	XP_011523903.1:p.Leu509=
XM_011525601.3:c.1527G>T	XP_011523903.1:p.Leu509=
NM_006796.3:c.1527G>T MANE Select	NP_006787.2:p.Leu509=