Canonical Allele Identifier: CA401944060

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 987295
• ClinVar RCV Id: RCV001268617 ; RCV001773581
• dbSNP Id: rs797045221
• gnomAD v4: 18-12337454-G-A
• MyVariant Identifiers: chr18:g.12337453G>A (hg19) ; chr18:g.12337454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337454G>A , CM000680.2:g.12337454G>A	GRCh38
NC_000018.9:g.12337453G>A , CM000680.1:g.12337453G>A	GRCh37
NC_000018.8:g.12327453G>A	NCBI36
NG_023361.1:g.44823C>T , LRG_666:g.44823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1658C>T (AFG3L2)	ENSP00000508998.1:n.*1658C>T
ENST00000687477.1:n.598C>T (AFG3L2)
ENST00000688199.1:c.1924C>T (AFG3L2)	ENSP00000510237.1:p.Pro642Ser
ENST00000691179.1:c.1987C>T (AFG3L2)	ENSP00000509010.1:p.Pro663Ser
ENST00000691970.1:c.*1439C>T (AFG3L2)	ENSP00000508440.1:n.*1439C>T
ENST00000692497.1:c.*492C>T (AFG3L2)	ENSP00000509870.1:n.*492C>T
ENST00000692988.1:n.1880C>T (AFG3L2)
ENST00000269143.8:c.2062C>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Pro688Ser
ENST00000269143.7:c.2062C>T (AFG3L2)	ENSP00000269143.2:p.Pro688Ser
ENST00000586691.1:c.88-6595G>A (TUBB6)
NM_006796.2:c.2062C>T , LRG_666t1:c.2062C>T (AFG3L2)	NP_006787.2:p.Pro688Ser
XM_011525601.1:c.1861C>T (AFG3L2)	XP_011523903.1:p.Pro621Ser
XM_011525601.3:c.1861C>T (AFG3L2)	XP_011523903.1:p.Pro621Ser
XR_002958227.1:n.451+552G>A
NM_006796.3:c.2062C>T (AFG3L2) MANE Select	NP_006787.2:p.Pro688Ser