Canonical Allele Identifier: CA2285205604

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351105G= , CM000680.2:g.12351105G=	GRCh38
NC_000018.9:g.12351104G= , CM000680.1:g.12351104G=	GRCh37
NC_000018.8:g.12341104G=	NCBI36
NG_023361.1:g.31172C= , LRG_666:g.31172C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1128C=	ENSP00000508998.1:n.*1128C=
ENST00000688199.1:c.1394C=	ENSP00000510237.1:p.Ser465=
ENST00000691179.1:c.1457C=	ENSP00000509010.1:p.Ser486=
ENST00000691970.1:c.*909C=	ENSP00000508440.1:n.*909C=
ENST00000692497.1:c.1532C=	ENSP00000509870.1:p.Ser511=
ENST00000692988.1:n.1350C=
ENST00000269143.8:c.1532C= MANE Select	ENSP00000269143.2:p.Ser511=
ENST00000269143.7:c.1532C=	ENSP00000269143.2:p.Ser511=
NM_006796.2:c.1532C= , LRG_666t1:c.1532C=	NP_006787.2:p.Ser511=
XM_011525601.1:c.1532C=	XP_011523903.1:p.Ser511=
XM_011525601.3:c.1532C=	XP_011523903.1:p.Ser511=
NM_006796.3:c.1532C= MANE Select	NP_006787.2:p.Ser511=