Canonical Allele Identifier: CA401943536

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 2004942
• ClinVar RCV Id: RCV002820658
• MyVariant Identifiers: chr18:g.12337343C>A (hg19) ; chr18:g.12337344C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337344C>A , CM000680.2:g.12337344C>A	GRCh38
NC_000018.9:g.12337343C>A , CM000680.1:g.12337343C>A	GRCh37
NC_000018.8:g.12327343C>A	NCBI36
NG_023361.1:g.44933G>T , LRG_666:g.44933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1768G>T (AFG3L2)	ENSP00000508998.1:n.*1768G>T
ENST00000687477.1:n.708G>T (AFG3L2)
ENST00000688199.1:c.2034G>T (AFG3L2)	ENSP00000510237.1:p.Glu678Asp
ENST00000691179.1:c.2097G>T (AFG3L2)	ENSP00000509010.1:p.Glu699Asp
ENST00000691970.1:c.*1549G>T (AFG3L2)	ENSP00000508440.1:n.*1549G>T
ENST00000692497.1:c.*602G>T (AFG3L2)	ENSP00000509870.1:n.*602G>T
ENST00000692988.1:n.1990G>T (AFG3L2)
ENST00000269143.8:c.2172G>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Glu724Asp
ENST00000269143.7:c.2172G>T (AFG3L2)	ENSP00000269143.2:p.Glu724Asp
ENST00000586691.1:c.88-6705C>A (TUBB6)
NM_006796.2:c.2172G>T , LRG_666t1:c.2172G>T (AFG3L2)	NP_006787.2:p.Glu724Asp
XM_011525601.1:c.1971G>T (AFG3L2)	XP_011523903.1:p.Glu657Asp
XM_011525601.3:c.1971G>T (AFG3L2)	XP_011523903.1:p.Glu657Asp
XR_002958227.1:n.451+442C>A
NM_006796.3:c.2172G>T (AFG3L2) MANE Select	NP_006787.2:p.Glu724Asp