Canonical Allele Identifier: CA2285199182

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1907799847

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337763_12337765del , CM000680.2:g.12337763_12337765del	GRCh38
NC_000018.9:g.12337762_12337764del , CM000680.1:g.12337762_12337764del	GRCh37
NC_000018.8:g.12327762_12327764del	NCBI36
NG_023361.1:g.44517_44519del , LRG_666:g.44517_44519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-225_*1577-223del (AFG3L2)	ENSP00000508998.1:n.*1577-225_*1577-223del
ENST00000687477.1:n.517-225_517-223del (AFG3L2)
ENST00000688199.1:c.1843-225_1843-223del (AFG3L2)	ENSP00000510237.1:n.1843-225_1843-223del
ENST00000691179.1:c.1906-225_1906-223del (AFG3L2)	ENSP00000509010.1:n.1906-225_1906-223del
ENST00000691970.1:c.*1358-225_*1358-223del (AFG3L2)	ENSP00000508440.1:n.*1358-225_*1358-223del
ENST00000692497.1:c.*411-225_*411-223del (AFG3L2)	ENSP00000509870.1:n.*411-225_*411-223del
ENST00000692988.1:n.1799-225_1799-223del (AFG3L2)
ENST00000269143.8:c.1981-225_1981-223del (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-225_1981-223del
ENST00000269143.7:c.1981-225_1981-223del (AFG3L2)	ENSP00000269143.2:n.1981-225_1981-223del
ENST00000586691.1:c.88-6286_88-6284del (TUBB6)
NM_006796.2:c.1981-225_1981-223del , LRG_666t1:c.1981-225_1981-223del (AFG3L2)	NP_006787.2:n.1981-225_1981-223del
XM_011525601.1:c.1780-225_1780-223del (AFG3L2)	XP_011523903.1:n.1780-225_1780-223del
XM_011525601.3:c.1780-225_1780-223del (AFG3L2)	XP_011523903.1:n.1780-225_1780-223del
XR_002958227.1:n.451+861_451+863del
NM_006796.3:c.1981-225_1981-223del (AFG3L2) MANE Select	NP_006787.2:n.1981-225_1981-223del