Canonical Allele Identifier: CA2285208336
Community Standard Title: NM_006796.3(AFG3L2):c.1153G= (p.Gly385=)
Gene: AFG3L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12356705C= , CM000680.2:g.12356705C= GRCh38
NC_000018.9:g.12356704C= , CM000680.1:g.12356704C= GRCh37
NC_000018.8:g.12346704C= NCBI36
NG_023361.1:g.25572G= , LRG_666:g.25572G=

Transcript Alleles

HGVS Amino-acid Change
NM_006796.3:c.1153G= MANE Select NP_006787.2:p.Gly385=
ENST00000269143.8:c.1153G= MANE Select ENSP00000269143.2:p.Gly385=
NM_006796.2:c.1153G= , LRG_666t1:c.1153G= NP_006787.2:p.Gly385=
ENST00000269143.7:c.1153G= ENSP00000269143.2:p.Gly385=
ENST00000687337.1:c.*749G= ENSP00000508998.1:n.*749G=
ENST00000688199.1:c.1026+1965G= ENSP00000510237.1:n.1026+1965G=
ENST00000691179.1:c.1078G= ENSP00000509010.1:p.Gly360=
ENST00000691970.1:c.*530G= ENSP00000508440.1:n.*530G=
ENST00000692497.1:c.1153G= ENSP00000509870.1:p.Gly385=
ENST00000692988.1:n.971G=
XM_011525601.1:c.1153G= XP_011523903.1:p.Gly385=
XM_011525601.3:c.1153G= XP_011523903.1:p.Gly385=