Canonical Allele Identifier: CA2811004148

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337577_12337580dup , CM000680.2:g.12337577_12337580dup	GRCh38
NC_000018.9:g.12337576_12337579dup , CM000680.1:g.12337576_12337579dup	GRCh37
NC_000018.8:g.12327576_12327579dup	NCBI36
NG_023361.1:g.44697_44700dup , LRG_666:g.44697_44700dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-45_*1577-42dup (AFG3L2)	ENSP00000508998.1:n.*1577-45_*1577-42dup
ENST00000687477.1:n.517-45_517-42dup (AFG3L2)
ENST00000688199.1:c.1843-45_1843-42dup (AFG3L2)	ENSP00000510237.1:n.1843-45_1843-42dup
ENST00000691179.1:c.1906-45_1906-42dup (AFG3L2)	ENSP00000509010.1:n.1906-45_1906-42dup
ENST00000691970.1:c.*1358-45_*1358-42dup (AFG3L2)	ENSP00000508440.1:n.*1358-45_*1358-42dup
ENST00000692497.1:c.*411-45_*411-42dup (AFG3L2)	ENSP00000509870.1:n.*411-45_*411-42dup
ENST00000692988.1:n.1799-45_1799-42dup (AFG3L2)
ENST00000269143.8:c.1981-45_1981-42dup (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-45_1981-42dup
ENST00000269143.7:c.1981-45_1981-42dup (AFG3L2)	ENSP00000269143.2:n.1981-45_1981-42dup
ENST00000586691.1:c.88-6472_88-6469dup (TUBB6)
NM_006796.2:c.1981-45_1981-42dup , LRG_666t1:c.1981-45_1981-42dup (AFG3L2)	NP_006787.2:n.1981-45_1981-42dup
XM_011525601.1:c.1780-45_1780-42dup (AFG3L2)	XP_011523903.1:n.1780-45_1780-42dup
XM_011525601.3:c.1780-45_1780-42dup (AFG3L2)	XP_011523903.1:n.1780-45_1780-42dup
XR_002958227.1:n.451+675_451+678dup
NM_006796.3:c.1981-45_1981-42dup (AFG3L2) MANE Select	NP_006787.2:n.1981-45_1981-42dup