Canonical Allele Identifier: CA503244910

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12358738C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12358739C>T , CM000680.2:g.12358739C>T	GRCh38
NC_000018.9:g.12358738C>T , CM000680.1:g.12358738C>T	GRCh37
NC_000018.8:g.12348738C>T	NCBI36
NG_023361.1:g.23538G>A , LRG_666:g.23538G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*553G>A	ENSP00000508998.1:n.*553G>A
ENST00000688199.1:c.957G>A	ENSP00000510237.1:p.Glu319=
ENST00000691179.1:c.882G>A	ENSP00000509010.1:p.Glu294=
ENST00000691970.1:c.*334G>A	ENSP00000508440.1:n.*334G>A
ENST00000692497.1:c.957G>A	ENSP00000509870.1:p.Glu319=
ENST00000692988.1:n.775G>A
ENST00000269143.8:c.957G>A MANE Select	ENSP00000269143.2:p.Glu319=
ENST00000269143.7:c.957G>A	ENSP00000269143.2:p.Glu319=
ENST00000590811.1:c.592G>A
NM_006796.2:c.957G>A , LRG_666t1:c.957G>A	NP_006787.2:p.Glu319=
XM_011525601.1:c.957G>A	XP_011523903.1:p.Glu319=
XM_011525601.3:c.957G>A	XP_011523903.1:p.Glu319=
NM_006796.3:c.957G>A MANE Select	NP_006787.2:p.Glu319=