Canonical Allele Identifier: CA401943876

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 810707
• ClinVar RCV Id: RCV000999531
• dbSNP Id: rs1598820822
• MyVariant Identifiers: chr18:g.12337414C>T (hg19) ; chr18:g.12337415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337415C>T , CM000680.2:g.12337415C>T	GRCh38
NC_000018.9:g.12337414C>T , CM000680.1:g.12337414C>T	GRCh37
NC_000018.8:g.12327414C>T	NCBI36
NG_023361.1:g.44862G>A , LRG_666:g.44862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1697G>A (AFG3L2)	ENSP00000508998.1:n.*1697G>A
ENST00000687477.1:n.637G>A (AFG3L2)
ENST00000688199.1:c.1963G>A (AFG3L2)	ENSP00000510237.1:p.Val655Ile
ENST00000691179.1:c.2026G>A (AFG3L2)	ENSP00000509010.1:p.Val676Ile
ENST00000691970.1:c.*1478G>A (AFG3L2)	ENSP00000508440.1:n.*1478G>A
ENST00000692497.1:c.*531G>A (AFG3L2)	ENSP00000509870.1:n.*531G>A
ENST00000692988.1:n.1919G>A (AFG3L2)
ENST00000269143.8:c.2101G>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Val701Ile
ENST00000269143.7:c.2101G>A (AFG3L2)	ENSP00000269143.2:p.Val701Ile
ENST00000586691.1:c.88-6634C>T (TUBB6)
NM_006796.2:c.2101G>A , LRG_666t1:c.2101G>A (AFG3L2)	NP_006787.2:p.Val701Ile
XM_011525601.1:c.1900G>A (AFG3L2)	XP_011523903.1:p.Val634Ile
XM_011525601.3:c.1900G>A (AFG3L2)	XP_011523903.1:p.Val634Ile
XR_002958227.1:n.451+513C>T
NM_006796.3:c.2101G>A (AFG3L2) MANE Select	NP_006787.2:p.Val701Ile