Canonical Allele Identifier: CA2285198926

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337478G= , CM000680.2:g.12337478G=	GRCh38
NC_000018.9:g.12337477G= , CM000680.1:g.12337477G=	GRCh37
NC_000018.8:g.12327477G=	NCBI36
NG_023361.1:g.44799C= , LRG_666:g.44799C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1634C= (AFG3L2)	ENSP00000508998.1:n.*1634C=
ENST00000687477.1:n.574C= (AFG3L2)
ENST00000688199.1:c.1900C= (AFG3L2)	ENSP00000510237.1:p.Gln634=
ENST00000691179.1:c.1963C= (AFG3L2)	ENSP00000509010.1:p.Gln655=
ENST00000691970.1:c.*1415C= (AFG3L2)	ENSP00000508440.1:n.*1415C=
ENST00000692497.1:c.*468C= (AFG3L2)	ENSP00000509870.1:n.*468C=
ENST00000692988.1:n.1856C= (AFG3L2)
ENST00000269143.8:c.2038C= (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln680=
ENST00000269143.7:c.2038C= (AFG3L2)	ENSP00000269143.2:p.Gln680=
ENST00000586691.1:c.88-6571G= (TUBB6)
NM_006796.2:c.2038C= , LRG_666t1:c.2038C= (AFG3L2)	NP_006787.2:p.Gln680=
XM_011525601.1:c.1837C= (AFG3L2)	XP_011523903.1:p.Gln613=
XM_011525601.3:c.1837C= (AFG3L2)	XP_011523903.1:p.Gln613=
XR_002958227.1:n.451+576G=
NM_006796.3:c.2038C= (AFG3L2) MANE Select	NP_006787.2:p.Gln680=