Canonical Allele Identifier: CA401944283

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1568133930
• MyVariant Identifiers: chr18:g.12337499T>A (hg19) ; chr18:g.12337500T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337500T>A , CM000680.2:g.12337500T>A	GRCh38
NC_000018.9:g.12337499T>A , CM000680.1:g.12337499T>A	GRCh37
NC_000018.8:g.12327499T>A	NCBI36
NG_023361.1:g.44777A>T , LRG_666:g.44777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1612A>T (AFG3L2)	ENSP00000508998.1:n.*1612A>T
ENST00000687477.1:n.552A>T (AFG3L2)
ENST00000688199.1:c.1878A>T (AFG3L2)	ENSP00000510237.1:p.Gln626His
ENST00000691179.1:c.1941A>T (AFG3L2)	ENSP00000509010.1:p.Gln647His
ENST00000691970.1:c.*1393A>T (AFG3L2)	ENSP00000508440.1:n.*1393A>T
ENST00000692497.1:c.*446A>T (AFG3L2)	ENSP00000509870.1:n.*446A>T
ENST00000692988.1:n.1834A>T (AFG3L2)
ENST00000269143.8:c.2016A>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln672His
ENST00000269143.7:c.2016A>T (AFG3L2)	ENSP00000269143.2:p.Gln672His
ENST00000586691.1:c.88-6549T>A (TUBB6)
NM_006796.2:c.2016A>T , LRG_666t1:c.2016A>T (AFG3L2)	NP_006787.2:p.Gln672His
XM_011525601.1:c.1815A>T (AFG3L2)	XP_011523903.1:p.Gln605His
XM_011525601.3:c.1815A>T (AFG3L2)	XP_011523903.1:p.Gln605His
XR_002958227.1:n.451+598T>A
NM_006796.3:c.2016A>T (AFG3L2) MANE Select	NP_006787.2:p.Gln672His