Canonical Allele Identifier: CA10650534

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 326096
• ClinVar RCV Id: RCV000403145
• dbSNP Id: rs886053612
• gnomAD v2: 18-12329191-C-T
• gnomAD v3: 18-12329192-C-T
• gnomAD v4: 18-12329192-C-T
• MyVariant Identifiers: chr18:g.12329191C>T (hg19) ; chr18:g.12329192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12329192C>T , CM000680.2:g.12329192C>T	GRCh38
NC_000018.9:g.12329191C>T , CM000680.1:g.12329191C>T	GRCh37
NC_000018.8:g.12319191C>T	NCBI36
NG_023361.1:g.53085G>A , LRG_666:g.53085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*2363G>A (AFG3L2)	ENSP00000508998.1:n.*2363G>A
ENST00000687477.1:n.1303G>A (AFG3L2)
ENST00000688199.1:c.*373G>A (AFG3L2)	ENSP00000510237.1:n.*373G>A
ENST00000691179.1:c.*373G>A (AFG3L2)	ENSP00000509010.1:n.*373G>A
ENST00000691970.1:c.*2144G>A (AFG3L2)	ENSP00000508440.1:n.*2144G>A
ENST00000692497.1:c.*1197G>A (AFG3L2)	ENSP00000509870.1:n.*1197G>A
ENST00000692988.1:n.2585G>A (AFG3L2)
ENST00000269143.8:c.*373G>A (AFG3L2) MANE Select	ENSP00000269143.2:n.*373G>A
ENST00000269143.7:c.*373G>A (AFG3L2)	ENSP00000269143.2:n.*373G>A
ENST00000586691.1:c.88-14857C>T (TUBB6)
ENST00000590967.5:c.278-7921C>T (TUBB6)	ENSP00000465386.1:n.278-7921C>T
ENST00000591909.5:c.*9C>T (TUBB6)	ENSP00000465040.1:n.*9C>T
NM_001303525.1:c.*9C>T (TUBB6)	NP_001290454.1:n.*9C>T
NM_006796.2:c.*373G>A , LRG_666t1:c.*373G>A (AFG3L2)	NP_006787.2:n.*373G>A
XM_011525601.1:c.*373G>A (AFG3L2)	XP_011523903.1:n.*373G>A
XM_011525601.3:c.*373G>A (AFG3L2)	XP_011523903.1:n.*373G>A
NM_006796.3:c.*373G>A (AFG3L2) MANE Select	NP_006787.2:n.*373G>A
NM_001303525.2:c.*9C>T (TUBB6)	NP_001290454.1:n.*9C>T