Canonical Allele Identifier: CA503244927

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12358741T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12358742T>G , CM000680.2:g.12358742T>G	GRCh38
NC_000018.9:g.12358741T>G , CM000680.1:g.12358741T>G	GRCh37
NC_000018.8:g.12348741T>G	NCBI36
NG_023361.1:g.23535A>C , LRG_666:g.23535A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*550A>C	ENSP00000508998.1:n.*550A>C
ENST00000688199.1:c.954A>C	ENSP00000510237.1:p.Leu318=
ENST00000691179.1:c.879A>C	ENSP00000509010.1:p.Leu293=
ENST00000691970.1:c.*331A>C	ENSP00000508440.1:n.*331A>C
ENST00000692497.1:c.954A>C	ENSP00000509870.1:p.Leu318=
ENST00000692988.1:n.772A>C
ENST00000269143.8:c.954A>C MANE Select	ENSP00000269143.2:p.Leu318=
ENST00000269143.7:c.954A>C	ENSP00000269143.2:p.Leu318=
ENST00000590811.1:c.589A>C
NM_006796.2:c.954A>C , LRG_666t1:c.954A>C	NP_006787.2:p.Leu318=
XM_011525601.1:c.954A>C	XP_011523903.1:p.Leu318=
XM_011525601.3:c.954A>C	XP_011523903.1:p.Leu318=
NM_006796.3:c.954A>C MANE Select	NP_006787.2:p.Leu318=