Canonical Allele Identifier: CA2285209231
Gene: AFG3L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12358732C= , CM000680.2:g.12358732C= GRCh38
NC_000018.9:g.12358731C= , CM000680.1:g.12358731C= GRCh37
NC_000018.8:g.12348731C= NCBI36
NG_023361.1:g.23545G= , LRG_666:g.23545G=

Transcript Alleles

HGVS Amino-acid Change
NM_006796.3:c.964G= MANE Select NP_006787.2:p.Glu322=
ENST00000269143.8:c.964G= MANE Select ENSP00000269143.2:p.Glu322=
NM_006796.2:c.964G= , LRG_666t1:c.964G= NP_006787.2:p.Glu322=
ENST00000269143.7:c.964G= ENSP00000269143.2:p.Glu322=
ENST00000590811.1:c.599G=
ENST00000687337.1:c.*560G= ENSP00000508998.1:n.*560G=
ENST00000688199.1:c.964G= ENSP00000510237.1:p.Glu322=
ENST00000691179.1:c.889G= ENSP00000509010.1:p.Glu297=
ENST00000691970.1:c.*341G= ENSP00000508440.1:n.*341G=
ENST00000692497.1:c.964G= ENSP00000509870.1:p.Glu322=
ENST00000692988.1:n.782G=
XM_011525601.1:c.964G= XP_011523903.1:p.Glu322=
XM_011525601.3:c.964G= XP_011523903.1:p.Glu322=