Canonical Allele Identifier: CA2285199190

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1907800598

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337772_12337773dup , CM000680.2:g.12337772_12337773dup	GRCh38
NC_000018.9:g.12337771_12337772dup , CM000680.1:g.12337771_12337772dup	GRCh37
NC_000018.8:g.12327771_12327772dup	NCBI36
NG_023361.1:g.44505_44506dup , LRG_666:g.44505_44506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-237_*1577-236dup (AFG3L2)	ENSP00000508998.1:n.*1577-237_*1577-236dup
ENST00000687477.1:n.517-237_517-236dup (AFG3L2)
ENST00000688199.1:c.1843-237_1843-236dup (AFG3L2)	ENSP00000510237.1:n.1843-237_1843-236dup
ENST00000691179.1:c.1906-237_1906-236dup (AFG3L2)	ENSP00000509010.1:n.1906-237_1906-236dup
ENST00000691970.1:c.*1358-237_*1358-236dup (AFG3L2)	ENSP00000508440.1:n.*1358-237_*1358-236dup
ENST00000692497.1:c.*411-237_*411-236dup (AFG3L2)	ENSP00000509870.1:n.*411-237_*411-236dup
ENST00000692988.1:n.1799-237_1799-236dup (AFG3L2)
ENST00000269143.8:c.1981-237_1981-236dup (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-237_1981-236dup
ENST00000269143.7:c.1981-237_1981-236dup (AFG3L2)	ENSP00000269143.2:n.1981-237_1981-236dup
ENST00000586691.1:c.88-6277_88-6276dup (TUBB6)
NM_006796.2:c.1981-237_1981-236dup , LRG_666t1:c.1981-237_1981-236dup (AFG3L2)	NP_006787.2:n.1981-237_1981-236dup
XM_011525601.1:c.1780-237_1780-236dup (AFG3L2)	XP_011523903.1:n.1780-237_1780-236dup
XM_011525601.3:c.1780-237_1780-236dup (AFG3L2)	XP_011523903.1:n.1780-237_1780-236dup
XR_002958227.1:n.451+870_451+871dup
NM_006796.3:c.1981-237_1981-236dup (AFG3L2) MANE Select	NP_006787.2:n.1981-237_1981-236dup