Canonical Allele Identifier: CA401953535

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12358742A>T (hg19) ; chr18:g.12358743A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12358743A>T , CM000680.2:g.12358743A>T	GRCh38
NC_000018.9:g.12358742A>T , CM000680.1:g.12358742A>T	GRCh37
NC_000018.8:g.12348742A>T	NCBI36
NG_023361.1:g.23534T>A , LRG_666:g.23534T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*549T>A	ENSP00000508998.1:n.*549T>A
ENST00000688199.1:c.953T>A	ENSP00000510237.1:p.Leu318Gln
ENST00000691179.1:c.878T>A	ENSP00000509010.1:p.Leu293Gln
ENST00000691970.1:c.*330T>A	ENSP00000508440.1:n.*330T>A
ENST00000692497.1:c.953T>A	ENSP00000509870.1:p.Leu318Gln
ENST00000692988.1:n.771T>A
ENST00000269143.8:c.953T>A MANE Select	ENSP00000269143.2:p.Leu318Gln
ENST00000269143.7:c.953T>A	ENSP00000269143.2:p.Leu318Gln
ENST00000590811.1:c.588T>A
NM_006796.2:c.953T>A , LRG_666t1:c.953T>A	NP_006787.2:p.Leu318Gln
XM_011525601.1:c.953T>A	XP_011523903.1:p.Leu318Gln
XM_011525601.3:c.953T>A	XP_011523903.1:p.Leu318Gln
NM_006796.3:c.953T>A MANE Select	NP_006787.2:p.Leu318Gln