Canonical Allele Identifier: CA2285205523

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12350904C= , CM000680.2:g.12350904C=	GRCh38
NC_000018.9:g.12350903C= , CM000680.1:g.12350903C=	GRCh37
NC_000018.8:g.12340903C=	NCBI36
NG_023361.1:g.31373G= , LRG_666:g.31373G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1148+181G=	ENSP00000508998.1:n.*1148+181G=
ENST00000688199.1:c.1414+181G=	ENSP00000510237.1:n.1414+181G=
ENST00000691179.1:c.1477+181G=	ENSP00000509010.1:n.1477+181G=
ENST00000691970.1:c.*929+181G=	ENSP00000508440.1:n.*929+181G=
ENST00000692497.1:c.1552+181G=	ENSP00000509870.1:n.1552+181G=
ENST00000692988.1:n.1370+181G=
ENST00000269143.8:c.1552+181G= MANE Select	ENSP00000269143.2:n.1552+181G=
ENST00000269143.7:c.1552+181G=	ENSP00000269143.2:n.1552+181G=
NM_006796.2:c.1552+181G= , LRG_666t1:c.1552+181G=	NP_006787.2:n.1552+181G=
XM_011525601.1:c.1552+181G=	XP_011523903.1:n.1552+181G=
XM_011525601.3:c.1552+181G=	XP_011523903.1:n.1552+181G=
NM_006796.3:c.1552+181G= MANE Select	NP_006787.2:n.1552+181G=