Canonical Allele Identifier: CA401952411

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351354C>T , CM000680.2:g.12351354C>T	GRCh38
NC_000018.9:g.12351353C>T , CM000680.1:g.12351353C>T	GRCh37
NC_000018.8:g.12341353C>T	NCBI36
NG_023361.1:g.30923G>A , LRG_666:g.30923G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1378G>A MANE Select	NP_006787.2:p.Asp460Asn
ENST00000269143.8:c.1378G>A MANE Select	ENSP00000269143.2:p.Asp460Asn
NM_006796.2:c.1378G>A , LRG_666t1:c.1378G>A	NP_006787.2:p.Asp460Asn
ENST00000269143.7:c.1378G>A	ENSP00000269143.2:p.Asp460Asn
ENST00000687337.1:c.*974G>A	ENSP00000508998.1:n.*974G>A
ENST00000688199.1:c.1240G>A	ENSP00000510237.1:p.Asp414Asn
ENST00000691179.1:c.1303G>A	ENSP00000509010.1:p.Asp435Asn
ENST00000691970.1:c.*755G>A	ENSP00000508440.1:n.*755G>A
ENST00000692497.1:c.1378G>A	ENSP00000509870.1:p.Asp460Asn
ENST00000692988.1:n.1196G>A
XM_011525601.1:c.1378G>A	XP_011523903.1:p.Asp460Asn
XM_011525601.3:c.1378G>A	XP_011523903.1:p.Asp460Asn