Canonical Allele Identifier: CA401944050

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 807537
• ClinVar RCV Id: RCV000995691 ; RCV001091986
• dbSNP Id: rs1598820860
• gnomAD v3: 18-12337451-A-G
• gnomAD v4: 18-12337451-A-G
• MyVariant Identifiers: chr18:g.12337450A>G (hg19) ; chr18:g.12337451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337451A>G , CM000680.2:g.12337451A>G	GRCh38
NC_000018.9:g.12337450A>G , CM000680.1:g.12337450A>G	GRCh37
NC_000018.8:g.12327450A>G	NCBI36
NG_023361.1:g.44826T>C , LRG_666:g.44826T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1661T>C (AFG3L2)	ENSP00000508998.1:n.*1661T>C
ENST00000687477.1:n.601T>C (AFG3L2)
ENST00000688199.1:c.1927T>C (AFG3L2)	ENSP00000510237.1:p.Tyr643His
ENST00000691179.1:c.1990T>C (AFG3L2)	ENSP00000509010.1:p.Tyr664His
ENST00000691970.1:c.*1442T>C (AFG3L2)	ENSP00000508440.1:n.*1442T>C
ENST00000692497.1:c.*495T>C (AFG3L2)	ENSP00000509870.1:n.*495T>C
ENST00000692988.1:n.1883T>C (AFG3L2)
ENST00000269143.8:c.2065T>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Tyr689His
ENST00000269143.7:c.2065T>C (AFG3L2)	ENSP00000269143.2:p.Tyr689His
ENST00000586691.1:c.88-6598A>G (TUBB6)
NM_006796.2:c.2065T>C , LRG_666t1:c.2065T>C (AFG3L2)	NP_006787.2:p.Tyr689His
XM_011525601.1:c.1864T>C (AFG3L2)	XP_011523903.1:p.Tyr622His
XM_011525601.3:c.1864T>C (AFG3L2)	XP_011523903.1:p.Tyr622His
XR_002958227.1:n.451+549A>G
NM_006796.3:c.2065T>C (AFG3L2) MANE Select	NP_006787.2:p.Tyr689His