Canonical Allele Identifier: CA2285205606
Gene: AFG3L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12351109C= , CM000680.2:g.12351109C= GRCh38
NC_000018.9:g.12351108C= , CM000680.1:g.12351108C= GRCh37
NC_000018.8:g.12341108C= NCBI36
NG_023361.1:g.31168G= , LRG_666:g.31168G=

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*1124G= ENSP00000508998.1:n.*1124G=
ENST00000688199.1:c.1390G= ENSP00000510237.1:p.Ala464=
ENST00000691179.1:c.1453G= ENSP00000509010.1:p.Ala485=
ENST00000691970.1:c.*905G= ENSP00000508440.1:n.*905G=
ENST00000692497.1:c.1528G= ENSP00000509870.1:p.Ala510=
ENST00000692988.1:n.1346G=
ENST00000269143.8:c.1528G= MANE Select ENSP00000269143.2:p.Ala510=
ENST00000269143.7:c.1528G= ENSP00000269143.2:p.Ala510=
NM_006796.2:c.1528G= , LRG_666t1:c.1528G= NP_006787.2:p.Ala510=
XM_011525601.1:c.1528G= XP_011523903.1:p.Ala510=
XM_011525601.3:c.1528G= XP_011523903.1:p.Ala510=
NM_006796.3:c.1528G= MANE Select NP_006787.2:p.Ala510=