Canonical Allele Identifier: CA2285198820

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337415C= , CM000680.2:g.12337415C=	GRCh38
NC_000018.9:g.12337414C= , CM000680.1:g.12337414C=	GRCh37
NC_000018.8:g.12327414C=	NCBI36
NG_023361.1:g.44862G= , LRG_666:g.44862G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1697G= (AFG3L2)	ENSP00000508998.1:n.*1697G=
ENST00000687477.1:n.637G= (AFG3L2)
ENST00000688199.1:c.1963G= (AFG3L2)	ENSP00000510237.1:p.Val655=
ENST00000691179.1:c.2026G= (AFG3L2)	ENSP00000509010.1:p.Val676=
ENST00000691970.1:c.*1478G= (AFG3L2)	ENSP00000508440.1:n.*1478G=
ENST00000692497.1:c.*531G= (AFG3L2)	ENSP00000509870.1:n.*531G=
ENST00000692988.1:n.1919G= (AFG3L2)
ENST00000269143.8:c.2101G= (AFG3L2) MANE Select	ENSP00000269143.2:p.Val701=
ENST00000269143.7:c.2101G= (AFG3L2)	ENSP00000269143.2:p.Val701=
ENST00000586691.1:c.88-6634C= (TUBB6)
NM_006796.2:c.2101G= , LRG_666t1:c.2101G= (AFG3L2)	NP_006787.2:p.Val701=
XM_011525601.1:c.1900G= (AFG3L2)	XP_011523903.1:p.Val634=
XM_011525601.3:c.1900G= (AFG3L2)	XP_011523903.1:p.Val634=
XR_002958227.1:n.451+513C=
NM_006796.3:c.2101G= (AFG3L2) MANE Select	NP_006787.2:p.Val701=