Canonical Allele Identifier: CA2285198976

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337530A= , CM000680.2:g.12337530A=	GRCh38
NC_000018.9:g.12337529A= , CM000680.1:g.12337529A=	GRCh37
NC_000018.8:g.12327529A=	NCBI36
NG_023361.1:g.44747T= , LRG_666:g.44747T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1582T= (AFG3L2)	ENSP00000508998.1:n.*1582T=
ENST00000687477.1:n.522T= (AFG3L2)
ENST00000688199.1:c.1848T= (AFG3L2)	ENSP00000510237.1:p.Val616=
ENST00000691179.1:c.1911T= (AFG3L2)	ENSP00000509010.1:p.Val637=
ENST00000691970.1:c.*1363T= (AFG3L2)	ENSP00000508440.1:n.*1363T=
ENST00000692497.1:c.*416T= (AFG3L2)	ENSP00000509870.1:n.*416T=
ENST00000692988.1:n.1804T= (AFG3L2)
ENST00000269143.8:c.1986T= (AFG3L2) MANE Select	ENSP00000269143.2:p.Val662=
ENST00000269143.7:c.1986T= (AFG3L2)	ENSP00000269143.2:p.Val662=
ENST00000586691.1:c.88-6519A= (TUBB6)
NM_006796.2:c.1986T= , LRG_666t1:c.1986T= (AFG3L2)	NP_006787.2:p.Val662=
XM_011525601.1:c.1785T= (AFG3L2)	XP_011523903.1:p.Val595=
XM_011525601.3:c.1785T= (AFG3L2)	XP_011523903.1:p.Val595=
XR_002958227.1:n.451+628A=
NM_006796.3:c.1986T= (AFG3L2) MANE Select	NP_006787.2:p.Val662=