Canonical Allele Identifier: CA2285205614

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351124A= , CM000680.2:g.12351124A=	GRCh38
NC_000018.9:g.12351123A= , CM000680.1:g.12351123A=	GRCh37
NC_000018.8:g.12341123A=	NCBI36
NG_023361.1:g.31153T= , LRG_666:g.31153T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1109T=	ENSP00000508998.1:n.*1109T=
ENST00000688199.1:c.1375T=	ENSP00000510237.1:p.Leu459=
ENST00000691179.1:c.1438T=	ENSP00000509010.1:p.Leu480=
ENST00000691970.1:c.*890T=	ENSP00000508440.1:n.*890T=
ENST00000692497.1:c.1513T=	ENSP00000509870.1:p.Leu505=
ENST00000692988.1:n.1331T=
ENST00000269143.8:c.1513T= MANE Select	ENSP00000269143.2:p.Leu505=
ENST00000269143.7:c.1513T=	ENSP00000269143.2:p.Leu505=
NM_006796.2:c.1513T= , LRG_666t1:c.1513T=	NP_006787.2:p.Leu505=
XM_011525601.1:c.1513T=	XP_011523903.1:p.Leu505=
XM_011525601.3:c.1513T=	XP_011523903.1:p.Leu505=
NM_006796.3:c.1513T= MANE Select	NP_006787.2:p.Leu505=