Canonical Allele Identifier: CA2285198901
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337452A= , CM000680.2:g.12337452A= GRCh38
NC_000018.9:g.12337451A= , CM000680.1:g.12337451A= GRCh37
NC_000018.8:g.12327451A= NCBI36
NG_023361.1:g.44825T= , LRG_666:g.44825T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1660T= (AFG3L2) ENSP00000508998.1:n.*1660T=
ENST00000687477.1:n.600T= (AFG3L2)
ENST00000688199.1:c.1926T= (AFG3L2) ENSP00000510237.1:p.Pro642=
ENST00000691179.1:c.1989T= (AFG3L2) ENSP00000509010.1:p.Pro663=
ENST00000691970.1:c.*1441T= (AFG3L2) ENSP00000508440.1:n.*1441T=
ENST00000692497.1:c.*494T= (AFG3L2) ENSP00000509870.1:n.*494T=
ENST00000692988.1:n.1882T= (AFG3L2)
ENST00000269143.8:c.2064T= (AFG3L2) MANE Select ENSP00000269143.2:p.Pro688=
ENST00000269143.7:c.2064T= (AFG3L2) ENSP00000269143.2:p.Pro688=
ENST00000586691.1:c.88-6597A= (TUBB6)
NM_006796.2:c.2064T= , LRG_666t1:c.2064T= (AFG3L2) NP_006787.2:p.Pro688=
XM_011525601.1:c.1863T= (AFG3L2) XP_011523903.1:p.Pro621=
XM_011525601.3:c.1863T= (AFG3L2) XP_011523903.1:p.Pro621=
XR_002958227.1:n.451+550A=
NM_006796.3:c.2064T= (AFG3L2) MANE Select NP_006787.2:p.Pro688=