Canonical Allele Identifier: CA1139665959

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 992876
• ClinVar RCV Id: RCV001281649

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337423_12337446dup , CM000680.2:g.12337423_12337446dup	GRCh38
NC_000018.9:g.12337422_12337445dup , CM000680.1:g.12337422_12337445dup	GRCh37
NC_000018.8:g.12327422_12327445dup	NCBI36
NG_023361.1:g.44834_44857dup , LRG_666:g.44834_44857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1669_*1692dup (AFG3L2)	ENSP00000508998.1:n.*1669_*1692dup
ENST00000687477.1:n.609_632dup (AFG3L2)
ENST00000688199.1:c.1935_1958dup (AFG3L2)	ENSP00000510237.1:p.Asp652_Asp653insGluAlaThrAlaArgLeuIleAsp
ENST00000691179.1:c.1998_2021dup (AFG3L2)	ENSP00000509010.1:p.Asp673_Asp674insGluAlaThrAlaArgLeuIleAsp
ENST00000691970.1:c.*1450_*1473dup (AFG3L2)	ENSP00000508440.1:n.*1450_*1473dup
ENST00000692497.1:c.*503_*526dup (AFG3L2)	ENSP00000509870.1:n.*503_*526dup
ENST00000692988.1:n.1891_1914dup (AFG3L2)
ENST00000269143.8:c.2073_2096dup (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp698_Asp699insGluAlaThrAlaArgLeuIleAsp
ENST00000269143.7:c.2073_2096dup (AFG3L2)	ENSP00000269143.2:p.Asp698_Asp699insGluAlaThrAlaArgLeuIleAsp
ENST00000586691.1:c.88-6626_88-6603dup (TUBB6)
NM_006796.2:c.2073_2096dup , LRG_666t1:c.2073_2096dup (AFG3L2)	NP_006787.2:p.Asp698_Asp699insGluAlaThrAlaArgLeuIleAsp
XM_011525601.1:c.1872_1895dup (AFG3L2)	XP_011523903.1:p.Asp631_Asp632insGluAlaThrAlaArgLeuIleAsp
XM_011525601.3:c.1872_1895dup (AFG3L2)	XP_011523903.1:p.Asp631_Asp632insGluAlaThrAlaArgLeuIleAsp
XR_002958227.1:n.451+521_451+544dup
NM_006796.3:c.2073_2096dup (AFG3L2) MANE Select	NP_006787.2:p.Asp698_Asp699insGluAlaThrAlaArgLeuIleAsp