Canonical Allele Identifier: CA8896322

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs774143679
• ExAC: 18:12337487 G / GT
• gnomAD v2: 18-12337487-G-GT
• gnomAD v3: 18-12337488-G-GT
• gnomAD v4: 18-12337488-G-GT
• MyVariant Identifiers: chr18:g.12337487_12337488insT (hg19) ; chr18:g.12337488_12337489insT (hg38)

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