Canonical Allele Identifier: CA8896589

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12356715G>A , CM000680.2:g.12356715G>A	GRCh38
NC_000018.9:g.12356714G>A , CM000680.1:g.12356714G>A	GRCh37
NC_000018.8:g.12346714G>A	NCBI36
NG_023361.1:g.25562C>T , LRG_666:g.25562C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1143C>T MANE Select	NP_006787.2:p.Phe381=
ENST00000269143.8:c.1143C>T MANE Select	ENSP00000269143.2:p.Phe381=
NM_006796.2:c.1143C>T , LRG_666t1:c.1143C>T	NP_006787.2:p.Phe381=
ENST00000269143.7:c.1143C>T	ENSP00000269143.2:p.Phe381=
ENST00000687337.1:c.*739C>T	ENSP00000508998.1:n.*739C>T
ENST00000688199.1:c.1026+1955C>T	ENSP00000510237.1:n.1026+1955C>T
ENST00000691179.1:c.1068C>T	ENSP00000509010.1:p.Phe356=
ENST00000691970.1:c.*520C>T	ENSP00000508440.1:n.*520C>T
ENST00000692497.1:c.1143C>T	ENSP00000509870.1:p.Phe381=
ENST00000692988.1:n.961C>T
XM_011525601.1:c.1143C>T	XP_011523903.1:p.Phe381=
XM_011525601.3:c.1143C>T	XP_011523903.1:p.Phe381=