Canonical Allele Identifier: CA2285209233

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12358745C= , CM000680.2:g.12358745C=	GRCh38
NC_000018.9:g.12358744C= , CM000680.1:g.12358744C=	GRCh37
NC_000018.8:g.12348744C=	NCBI36
NG_023361.1:g.23532G= , LRG_666:g.23532G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*547G=	ENSP00000508998.1:n.*547G=
ENST00000688199.1:c.951G=	ENSP00000510237.1:p.Lys317=
ENST00000691179.1:c.876G=	ENSP00000509010.1:p.Lys292=
ENST00000691970.1:c.*328G=	ENSP00000508440.1:n.*328G=
ENST00000692497.1:c.951G=	ENSP00000509870.1:p.Lys317=
ENST00000692988.1:n.769G=
ENST00000269143.8:c.951G= MANE Select	ENSP00000269143.2:p.Lys317=
ENST00000269143.7:c.951G=	ENSP00000269143.2:p.Lys317=
ENST00000590811.1:c.586G=
NM_006796.2:c.951G= , LRG_666t1:c.951G=	NP_006787.2:p.Lys317=
XM_011525601.1:c.951G=	XP_011523903.1:p.Lys317=
XM_011525601.3:c.951G=	XP_011523903.1:p.Lys317=
NM_006796.3:c.951G= MANE Select	NP_006787.2:p.Lys317=