Canonical Allele Identifier: CA2285200373
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12340115T= , CM000680.2:g.12340115T= GRCh38
NC_000018.9:g.12340114T= , CM000680.1:g.12340114T= GRCh37
NC_000018.8:g.12330114T= NCBI36
NG_023361.1:g.42162A= , LRG_666:g.42162A=

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*1576+86A= (AFG3L2) ENSP00000508998.1:n.*1576+86A=
ENST00000687477.1:n.516+86A= (AFG3L2)
ENST00000688199.1:c.1842+86A= (AFG3L2) ENSP00000510237.1:n.1842+86A=
ENST00000691179.1:c.1905+86A= (AFG3L2) ENSP00000509010.1:n.1905+86A=
ENST00000691970.1:c.*1357+86A= (AFG3L2) ENSP00000508440.1:n.*1357+86A=
ENST00000692497.1:c.*410+86A= (AFG3L2) ENSP00000509870.1:n.*410+86A=
ENST00000692988.1:n.1798+86A= (AFG3L2)
ENST00000269143.8:c.1980+86A= (AFG3L2) MANE Select ENSP00000269143.2:n.1980+86A=
ENST00000269143.7:c.1980+86A= (AFG3L2) ENSP00000269143.2:n.1980+86A=
ENST00000586691.1:c.88-3934T= (TUBB6)
NM_006796.2:c.1980+86A= , LRG_666t1:c.1980+86A= (AFG3L2) NP_006787.2:n.1980+86A=
XM_011525601.1:c.1780-2580A= (AFG3L2) XP_011523903.1:n.1780-2580A=
XM_011525601.3:c.1780-2580A= (AFG3L2) XP_011523903.1:n.1780-2580A=
XR_001753363.1:n.415+1535T=
XR_002958227.1:n.451+3213T=
NM_006796.3:c.1980+86A= (AFG3L2) MANE Select NP_006787.2:n.1980+86A=