Canonical Allele Identifier: CA2285198932
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337488G= , CM000680.2:g.12337488G= GRCh38
NC_000018.9:g.12337487G= , CM000680.1:g.12337487G= GRCh37
NC_000018.8:g.12327487G= NCBI36
NG_023361.1:g.44789C= , LRG_666:g.44789C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1624C= (AFG3L2) ENSP00000508998.1:n.*1624C=
ENST00000687477.1:n.564C= (AFG3L2)
ENST00000688199.1:c.1890C= (AFG3L2) ENSP00000510237.1:p.Asp630=
ENST00000691179.1:c.1953C= (AFG3L2) ENSP00000509010.1:p.Asp651=
ENST00000691970.1:c.*1405C= (AFG3L2) ENSP00000508440.1:n.*1405C=
ENST00000692497.1:c.*458C= (AFG3L2) ENSP00000509870.1:n.*458C=
ENST00000692988.1:n.1846C= (AFG3L2)
ENST00000269143.8:c.2028C= (AFG3L2) MANE Select ENSP00000269143.2:p.Asp676=
ENST00000269143.7:c.2028C= (AFG3L2) ENSP00000269143.2:p.Asp676=
ENST00000586691.1:c.88-6561G= (TUBB6)
NM_006796.2:c.2028C= , LRG_666t1:c.2028C= (AFG3L2) NP_006787.2:p.Asp676=
XM_011525601.1:c.1827C= (AFG3L2) XP_011523903.1:p.Asp609=
XM_011525601.3:c.1827C= (AFG3L2) XP_011523903.1:p.Asp609=
XR_002958227.1:n.451+586G=
NM_006796.3:c.2028C= (AFG3L2) MANE Select NP_006787.2:p.Asp676=