Canonical Allele Identifier: CA2285214890

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12370847A= , CM000680.2:g.12370847A=	GRCh38
NC_000018.9:g.12370846A= , CM000680.1:g.12370846A=	GRCh37
NC_000018.8:g.12360846A=	NCBI36
NG_023361.1:g.11430T= , LRG_666:g.11430T=

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.292+2T= MANE Select	NP_006787.2:n.292+2T=
ENST00000269143.8:c.292+2T= MANE Select	ENSP00000269143.2:n.292+2T=
NM_006796.2:c.292+2T= , LRG_666t1:c.292+2T=	NP_006787.2:n.292+2T=
ENST00000269143.7:c.292+2T=	ENSP00000269143.2:n.292+2T=
ENST00000590811.1:c.35-3730T=
ENST00000687337.1:c.292+2T=	ENSP00000508998.1:n.292+2T=
ENST00000688199.1:c.292+2T=	ENSP00000510237.1:n.292+2T=
ENST00000691179.1:c.292+2T=	ENSP00000509010.1:n.292+2T=
ENST00000691970.1:c.292+2T=	ENSP00000508440.1:n.292+2T=
ENST00000692497.1:c.292+2T=	ENSP00000509870.1:n.292+2T=
XM_011525601.1:c.292+2T=	XP_011523903.1:n.292+2T=
XM_011525601.3:c.292+2T=	XP_011523903.1:n.292+2T=