Canonical Allele Identifier: CA2285198776

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337396T= , CM000680.2:g.12337396T=	GRCh38
NC_000018.9:g.12337395T= , CM000680.1:g.12337395T=	GRCh37
NC_000018.8:g.12327395T=	NCBI36
NG_023361.1:g.44881A= , LRG_666:g.44881A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1716A= (AFG3L2)	ENSP00000508998.1:n.*1716A=
ENST00000687477.1:n.656A= (AFG3L2)
ENST00000688199.1:c.1982A= (AFG3L2)	ENSP00000510237.1:p.Asp661=
ENST00000691179.1:c.2045A= (AFG3L2)	ENSP00000509010.1:p.Asp682=
ENST00000691970.1:c.*1497A= (AFG3L2)	ENSP00000508440.1:n.*1497A=
ENST00000692497.1:c.*550A= (AFG3L2)	ENSP00000509870.1:n.*550A=
ENST00000692988.1:n.1938A= (AFG3L2)
ENST00000269143.8:c.2120A= (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp707=
ENST00000269143.7:c.2120A= (AFG3L2)	ENSP00000269143.2:p.Asp707=
ENST00000586691.1:c.88-6653T= (TUBB6)
NM_006796.2:c.2120A= , LRG_666t1:c.2120A= (AFG3L2)	NP_006787.2:p.Asp707=
XM_011525601.1:c.1919A= (AFG3L2)	XP_011523903.1:p.Asp640=
XM_011525601.3:c.1919A= (AFG3L2)	XP_011523903.1:p.Asp640=
XR_002958227.1:n.451+494T=
NM_006796.3:c.2120A= (AFG3L2) MANE Select	NP_006787.2:p.Asp707=