Canonical Allele Identifier: CA2811004135
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337560_12337561insCAG , CM000680.2:g.12337560_12337561insCAG GRCh38
NC_000018.9:g.12337559_12337560insCAG , CM000680.1:g.12337559_12337560insCAG GRCh37
NC_000018.8:g.12327559_12327560insCAG NCBI36
NG_023361.1:g.44716_44717insCTG , LRG_666:g.44716_44717insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1577-26_*1577-25insCTG (AFG3L2) ENSP00000508998.1:n.*1577-26_*1577-25insCTG
ENST00000687477.1:n.517-26_517-25insCTG (AFG3L2)
ENST00000688199.1:c.1843-26_1843-25insCTG (AFG3L2) ENSP00000510237.1:n.1843-26_1843-25insCTG
ENST00000691179.1:c.1906-26_1906-25insCTG (AFG3L2) ENSP00000509010.1:n.1906-26_1906-25insCTG
ENST00000691970.1:c.*1358-26_*1358-25insCTG (AFG3L2) ENSP00000508440.1:n.*1358-26_*1358-25insCTG
ENST00000692497.1:c.*411-26_*411-25insCTG (AFG3L2) ENSP00000509870.1:n.*411-26_*411-25insCTG
ENST00000692988.1:n.1799-26_1799-25insCTG (AFG3L2)
ENST00000269143.8:c.1981-26_1981-25insCTG (AFG3L2) MANE Select ENSP00000269143.2:n.1981-26_1981-25insCTG
ENST00000269143.7:c.1981-26_1981-25insCTG (AFG3L2) ENSP00000269143.2:n.1981-26_1981-25insCTG
ENST00000586691.1:c.88-6489_88-6488insCAG (TUBB6)
NM_006796.2:c.1981-26_1981-25insCTG , LRG_666t1:c.1981-26_1981-25insCTG (AFG3L2) NP_006787.2:n.1981-26_1981-25insCTG
XM_011525601.1:c.1780-26_1780-25insCTG (AFG3L2) XP_011523903.1:n.1780-26_1780-25insCTG
XM_011525601.3:c.1780-26_1780-25insCTG (AFG3L2) XP_011523903.1:n.1780-26_1780-25insCTG
XR_002958227.1:n.451+658_451+659insCAG
NM_006796.3:c.1981-26_1981-25insCTG (AFG3L2) MANE Select NP_006787.2:n.1981-26_1981-25insCTG