Canonical Allele Identifier: CA401944072

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 1806914
• ClinVar RCV Id: RCV002474343
• gnomAD v4: 18-12337456-T-G
• MyVariant Identifiers: chr18:g.12337455T>G (hg19) ; chr18:g.12337456T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337456T>G , CM000680.2:g.12337456T>G	GRCh38
NC_000018.9:g.12337455T>G , CM000680.1:g.12337455T>G	GRCh37
NC_000018.8:g.12327455T>G	NCBI36
NG_023361.1:g.44821A>C , LRG_666:g.44821A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1656A>C (AFG3L2)	ENSP00000508998.1:n.*1656A>C
ENST00000687477.1:n.596A>C (AFG3L2)
ENST00000688199.1:c.1922A>C (AFG3L2)	ENSP00000510237.1:p.Lys641Thr
ENST00000691179.1:c.1985A>C (AFG3L2)	ENSP00000509010.1:p.Lys662Thr
ENST00000691970.1:c.*1437A>C (AFG3L2)	ENSP00000508440.1:n.*1437A>C
ENST00000692497.1:c.*490A>C (AFG3L2)	ENSP00000509870.1:n.*490A>C
ENST00000692988.1:n.1878A>C (AFG3L2)
ENST00000269143.8:c.2060A>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Lys687Thr
ENST00000269143.7:c.2060A>C (AFG3L2)	ENSP00000269143.2:p.Lys687Thr
ENST00000586691.1:c.88-6593T>G (TUBB6)
NM_006796.2:c.2060A>C , LRG_666t1:c.2060A>C (AFG3L2)	NP_006787.2:p.Lys687Thr
XM_011525601.1:c.1859A>C (AFG3L2)	XP_011523903.1:p.Lys620Thr
XM_011525601.3:c.1859A>C (AFG3L2)	XP_011523903.1:p.Lys620Thr
XR_002958227.1:n.451+554T>G
NM_006796.3:c.2060A>C (AFG3L2) MANE Select	NP_006787.2:p.Lys687Thr