Canonical Allele Identifier: CA2285205695

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351343C= , CM000680.2:g.12351343C=	GRCh38
NC_000018.9:g.12351342C= , CM000680.1:g.12351342C=	GRCh37
NC_000018.8:g.12341342C=	NCBI36
NG_023361.1:g.30934G= , LRG_666:g.30934G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*985G=	ENSP00000508998.1:n.*985G=
ENST00000688199.1:c.1251G=	ENSP00000510237.1:p.Leu417=
ENST00000691179.1:c.1314G=	ENSP00000509010.1:p.Leu438=
ENST00000691970.1:c.*766G=	ENSP00000508440.1:n.*766G=
ENST00000692497.1:c.1389G=	ENSP00000509870.1:p.Leu463=
ENST00000692988.1:n.1207G=
ENST00000269143.8:c.1389G= MANE Select	ENSP00000269143.2:p.Leu463=
ENST00000269143.7:c.1389G=	ENSP00000269143.2:p.Leu463=
NM_006796.2:c.1389G= , LRG_666t1:c.1389G=	NP_006787.2:p.Leu463=
XM_011525601.1:c.1389G=	XP_011523903.1:p.Leu463=
XM_011525601.3:c.1389G=	XP_011523903.1:p.Leu463=
NM_006796.3:c.1389G= MANE Select	NP_006787.2:p.Leu463=