Canonical Allele Identifier: CA8896322
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Linked Data

dbSNP Id: rs774143679

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337489dup , CM000680.2:g.12337489dup GRCh38
NC_000018.9:g.12337488dup , CM000680.1:g.12337488dup GRCh37
NC_000018.8:g.12327488dup NCBI36
NG_023361.1:g.44788dup , LRG_666:g.44788dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1623dup (AFG3L2) ENSP00000508998.1:n.*1623dup
ENST00000687477.1:n.563dup (AFG3L2)
ENST00000688199.1:c.1889dup (AFG3L2) ENSP00000510237.1:p.Asp630GlufsTer16
ENST00000691179.1:c.1952dup (AFG3L2) ENSP00000509010.1:p.Asp651GlufsTer16
ENST00000691970.1:c.*1404dup (AFG3L2) ENSP00000508440.1:n.*1404dup
ENST00000692497.1:c.*457dup (AFG3L2) ENSP00000509870.1:n.*457dup
ENST00000692988.1:n.1845dup (AFG3L2)
ENST00000269143.8:c.2027dup (AFG3L2) MANE Select ENSP00000269143.2:p.Asp676GlufsTer16
ENST00000269143.7:c.2027dup (AFG3L2) ENSP00000269143.2:p.Asp676GlufsTer16
ENST00000586691.1:c.88-6560dup (TUBB6)
NM_006796.2:c.2027dup , LRG_666t1:c.2027dup (AFG3L2) NP_006787.2:p.Asp676GlufsTer16
XM_011525601.1:c.1826dup (AFG3L2) XP_011523903.1:p.Asp609GlufsTer16
XM_011525601.3:c.1826dup (AFG3L2) XP_011523903.1:p.Asp609GlufsTer16
XR_002958227.1:n.451+587dup
NM_006796.3:c.2027dup (AFG3L2) MANE Select NP_006787.2:p.Asp676GlufsTer16