Canonical Allele Identifier: CA2285205601

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351097G= , CM000680.2:g.12351097G=	GRCh38
NC_000018.9:g.12351096G= , CM000680.1:g.12351096G=	GRCh37
NC_000018.8:g.12341096G=	NCBI36
NG_023361.1:g.31180C= , LRG_666:g.31180C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1540C= MANE Select	NP_006787.2:p.Pro514=
ENST00000269143.8:c.1540C= MANE Select	ENSP00000269143.2:p.Pro514=
NM_006796.2:c.1540C= , LRG_666t1:c.1540C=	NP_006787.2:p.Pro514=
ENST00000269143.7:c.1540C=	ENSP00000269143.2:p.Pro514=
ENST00000687337.1:c.*1136C=	ENSP00000508998.1:n.*1136C=
ENST00000688199.1:c.1402C=	ENSP00000510237.1:p.Pro468=
ENST00000691179.1:c.1465C=	ENSP00000509010.1:p.Pro489=
ENST00000691970.1:c.*917C=	ENSP00000508440.1:n.*917C=
ENST00000692497.1:c.1540C=	ENSP00000509870.1:p.Pro514=
ENST00000692988.1:n.1358C=
XM_011525601.1:c.1540C=	XP_011523903.1:p.Pro514=
XM_011525601.3:c.1540C=	XP_011523903.1:p.Pro514=