Canonical Allele Identifier: CA401943998

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337440G>T (hg19) ; chr18:g.12337441G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337441G>T , CM000680.2:g.12337441G>T	GRCh38
NC_000018.9:g.12337440G>T , CM000680.1:g.12337440G>T	GRCh37
NC_000018.8:g.12327440G>T	NCBI36
NG_023361.1:g.44836C>A , LRG_666:g.44836C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1671C>A (AFG3L2)	ENSP00000508998.1:n.*1671C>A
ENST00000687477.1:n.611C>A (AFG3L2)
ENST00000688199.1:c.1937C>A (AFG3L2)	ENSP00000510237.1:p.Ala646Asp
ENST00000691179.1:c.2000C>A (AFG3L2)	ENSP00000509010.1:p.Ala667Asp
ENST00000691970.1:c.*1452C>A (AFG3L2)	ENSP00000508440.1:n.*1452C>A
ENST00000692497.1:c.*505C>A (AFG3L2)	ENSP00000509870.1:n.*505C>A
ENST00000692988.1:n.1893C>A (AFG3L2)
ENST00000269143.8:c.2075C>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Ala692Asp
ENST00000269143.7:c.2075C>A (AFG3L2)	ENSP00000269143.2:p.Ala692Asp
ENST00000586691.1:c.88-6608G>T (TUBB6)
NM_006796.2:c.2075C>A , LRG_666t1:c.2075C>A (AFG3L2)	NP_006787.2:p.Ala692Asp
XM_011525601.1:c.1874C>A (AFG3L2)	XP_011523903.1:p.Ala625Asp
XM_011525601.3:c.1874C>A (AFG3L2)	XP_011523903.1:p.Ala625Asp
XR_002958227.1:n.451+539G>T
NM_006796.3:c.2075C>A (AFG3L2) MANE Select	NP_006787.2:p.Ala692Asp