Canonical Allele Identifier: CA401944302

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 1184872
• ClinVar RCV Id: RCV001543437
• dbSNP Id: rs151344517
• MyVariant Identifiers: chr18:g.12337504C>A (hg19) ; chr18:g.12337505C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337505C>A , CM000680.2:g.12337505C>A	GRCh38
NC_000018.9:g.12337504C>A , CM000680.1:g.12337504C>A	GRCh37
NC_000018.8:g.12327504C>A	NCBI36
NG_023361.1:g.44772G>T , LRG_666:g.44772G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1607G>T (AFG3L2)	ENSP00000508998.1:n.*1607G>T
ENST00000687477.1:n.547G>T (AFG3L2)
ENST00000688199.1:c.1873G>T (AFG3L2)	ENSP00000510237.1:p.Gly625Trp
ENST00000691179.1:c.1936G>T (AFG3L2)	ENSP00000509010.1:p.Gly646Trp
ENST00000691970.1:c.*1388G>T (AFG3L2)	ENSP00000508440.1:n.*1388G>T
ENST00000692497.1:c.*441G>T (AFG3L2)	ENSP00000509870.1:n.*441G>T
ENST00000692988.1:n.1829G>T (AFG3L2)
ENST00000269143.8:c.2011G>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Gly671Trp
ENST00000269143.7:c.2011G>T (AFG3L2)	ENSP00000269143.2:p.Gly671Trp
ENST00000586691.1:c.88-6544C>A (TUBB6)
NM_006796.2:c.2011G>T , LRG_666t1:c.2011G>T (AFG3L2)	NP_006787.2:p.Gly671Trp
XM_011525601.1:c.1810G>T (AFG3L2)	XP_011523903.1:p.Gly604Trp
XM_011525601.3:c.1810G>T (AFG3L2)	XP_011523903.1:p.Gly604Trp
XR_002958227.1:n.451+603C>A
NM_006796.3:c.2011G>T (AFG3L2) MANE Select	NP_006787.2:p.Gly671Trp