Canonical Allele Identifier: CA2285199006
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337554G= , CM000680.2:g.12337554G= GRCh38
NC_000018.9:g.12337553G= , CM000680.1:g.12337553G= GRCh37
NC_000018.8:g.12327553G= NCBI36
NG_023361.1:g.44723C= , LRG_666:g.44723C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1577-19C= (AFG3L2) ENSP00000508998.1:n.*1577-19C=
ENST00000687477.1:n.517-19C= (AFG3L2)
ENST00000688199.1:c.1843-19C= (AFG3L2) ENSP00000510237.1:n.1843-19C=
ENST00000691179.1:c.1906-19C= (AFG3L2) ENSP00000509010.1:n.1906-19C=
ENST00000691970.1:c.*1358-19C= (AFG3L2) ENSP00000508440.1:n.*1358-19C=
ENST00000692497.1:c.*411-19C= (AFG3L2) ENSP00000509870.1:n.*411-19C=
ENST00000692988.1:n.1799-19C= (AFG3L2)
ENST00000269143.8:c.1981-19C= (AFG3L2) MANE Select ENSP00000269143.2:n.1981-19C=
ENST00000269143.7:c.1981-19C= (AFG3L2) ENSP00000269143.2:n.1981-19C=
ENST00000586691.1:c.88-6495G= (TUBB6)
NM_006796.2:c.1981-19C= , LRG_666t1:c.1981-19C= (AFG3L2) NP_006787.2:n.1981-19C=
XM_011525601.1:c.1780-19C= (AFG3L2) XP_011523903.1:n.1780-19C=
XM_011525601.3:c.1780-19C= (AFG3L2) XP_011523903.1:n.1780-19C=
XR_002958227.1:n.451+652G=
NM_006796.3:c.1981-19C= (AFG3L2) MANE Select NP_006787.2:n.1981-19C=