Canonical Allele Identifier: CA8896299

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 2907709
• ClinVar RCV Id: RCV003727307
• dbSNP Id: rs780093104
• ExAC: 18:12337349 G / A
• gnomAD v2: 18-12337349-G-A
• gnomAD v3: 18-12337350-G-A
• gnomAD v4: 18-12337350-G-A
• COSMIC: COSM5055946
• MyVariant Identifiers: chr18:g.12337349G>A (hg19) ; chr18:g.12337350G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337350G>A , CM000680.2:g.12337350G>A	GRCh38
NC_000018.9:g.12337349G>A , CM000680.1:g.12337349G>A	GRCh37
NC_000018.8:g.12327349G>A	NCBI36
NG_023361.1:g.44927C>T , LRG_666:g.44927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1762C>T (AFG3L2)	ENSP00000508998.1:n.*1762C>T
ENST00000687477.1:n.702C>T (AFG3L2)
ENST00000688199.1:c.2028C>T (AFG3L2)	ENSP00000510237.1:p.Asp676=
ENST00000691179.1:c.2091C>T (AFG3L2)	ENSP00000509010.1:p.Asp697=
ENST00000691970.1:c.*1543C>T (AFG3L2)	ENSP00000508440.1:n.*1543C>T
ENST00000692497.1:c.*596C>T (AFG3L2)	ENSP00000509870.1:n.*596C>T
ENST00000692988.1:n.1984C>T (AFG3L2)
ENST00000269143.8:c.2166C>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp722=
ENST00000269143.7:c.2166C>T (AFG3L2)	ENSP00000269143.2:p.Asp722=
ENST00000586691.1:c.88-6699G>A (TUBB6)
NM_006796.2:c.2166C>T , LRG_666t1:c.2166C>T (AFG3L2)	NP_006787.2:p.Asp722=
XM_011525601.1:c.1965C>T (AFG3L2)	XP_011523903.1:p.Asp655=
XM_011525601.3:c.1965C>T (AFG3L2)	XP_011523903.1:p.Asp655=
XR_002958227.1:n.451+448G>A
NM_006796.3:c.2166C>T (AFG3L2) MANE Select	NP_006787.2:p.Asp722=