Canonical Allele Identifier: CA401954380

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12363838C>T , CM000680.2:g.12363838C>T	GRCh38
NC_000018.9:g.12363837C>T , CM000680.1:g.12363837C>T	GRCh37
NC_000018.8:g.12353837C>T	NCBI36
NG_023361.1:g.18439G>A , LRG_666:g.18439G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.571G>A MANE Select	NP_006787.2:p.Val191Ile
ENST00000269143.8:c.571G>A MANE Select	ENSP00000269143.2:p.Val191Ile
NM_006796.2:c.571G>A , LRG_666t1:c.571G>A	NP_006787.2:p.Val191Ile
ENST00000269143.7:c.571G>A	ENSP00000269143.2:p.Val191Ile
ENST00000590811.1:c.206G>A
ENST00000687337.1:c.*167G>A	ENSP00000508998.1:n.*167G>A
ENST00000688199.1:c.571G>A	ENSP00000510237.1:p.Val191Ile
ENST00000691179.1:c.552+3127G>A	ENSP00000509010.1:n.552+3127G>A
ENST00000691970.1:c.311G>A	ENSP00000508440.1:p.Arg104His
ENST00000692497.1:c.571G>A	ENSP00000509870.1:p.Val191Ile
ENST00000692988.1:n.389G>A
XM_011525601.1:c.571G>A	XP_011523903.1:p.Val191Ile
XM_011525601.3:c.571G>A	XP_011523903.1:p.Val191Ile