Canonical Allele Identifier: CA401951738

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12351100T>A (hg19) ; chr18:g.12351101T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351101T>A , CM000680.2:g.12351101T>A	GRCh38
NC_000018.9:g.12351100T>A , CM000680.1:g.12351100T>A	GRCh37
NC_000018.8:g.12341100T>A	NCBI36
NG_023361.1:g.31176A>T , LRG_666:g.31176A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1132A>T	ENSP00000508998.1:n.*1132A>T
ENST00000688199.1:c.1398A>T	ENSP00000510237.1:p.Leu466Phe
ENST00000691179.1:c.1461A>T	ENSP00000509010.1:p.Leu487Phe
ENST00000691970.1:c.*913A>T	ENSP00000508440.1:n.*913A>T
ENST00000692497.1:c.1536A>T	ENSP00000509870.1:p.Leu512Phe
ENST00000692988.1:n.1354A>T
ENST00000269143.8:c.1536A>T MANE Select	ENSP00000269143.2:p.Leu512Phe
ENST00000269143.7:c.1536A>T	ENSP00000269143.2:p.Leu512Phe
NM_006796.2:c.1536A>T , LRG_666t1:c.1536A>T	NP_006787.2:p.Leu512Phe
XM_011525601.1:c.1536A>T	XP_011523903.1:p.Leu512Phe
XM_011525601.3:c.1536A>T	XP_011523903.1:p.Leu512Phe
NM_006796.3:c.1536A>T MANE Select	NP_006787.2:p.Leu512Phe