Canonical Allele Identifier: CA658799001

Gene: AFG3L2 TUBB6

Linked Data

• ClinVar Variation Id: 521530
• ClinVar RCV Id: RCV000624881
• dbSNP Id: rs1555670560

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337521_12337522delinsAA , CM000680.2:g.12337521_12337522delinsAA	GRCh38
NC_000018.9:g.12337520_12337521delinsAA , CM000680.1:g.12337520_12337521delinsAA	GRCh37
NC_000018.8:g.12327520_12327521delinsAA	NCBI36
NG_023361.1:g.44755_44756delinsTT , LRG_666:g.44755_44756delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1590_*1591delinsTT (AFG3L2)	ENSP00000508998.1:n.*1590_*1591delinsTT
ENST00000687477.1:n.530_531delinsTT (AFG3L2)
ENST00000688199.1:c.1856_1857delinsTT (AFG3L2)	ENSP00000510237.1:p.Gly619Val
ENST00000691179.1:c.1919_1920delinsTT (AFG3L2)	ENSP00000509010.1:p.Gly640Val
ENST00000691970.1:c.*1371_*1372delinsTT (AFG3L2)	ENSP00000508440.1:n.*1371_*1372delinsTT
ENST00000692497.1:c.*424_*425delinsTT (AFG3L2)	ENSP00000509870.1:n.*424_*425delinsTT
ENST00000692988.1:n.1812_1813delinsTT (AFG3L2)
ENST00000269143.8:c.1994_1995delinsTT (AFG3L2) MANE Select	ENSP00000269143.2:p.Gly665Val
ENST00000269143.7:c.1994_1995delinsTT (AFG3L2)	ENSP00000269143.2:p.Gly665Val
ENST00000586691.1:c.88-6528_88-6527delinsAA (TUBB6)
NM_006796.2:c.1994_1995delinsTT , LRG_666t1:c.1994_1995delinsTT (AFG3L2)	NP_006787.2:p.Gly665Val
XM_011525601.1:c.1793_1794delinsTT (AFG3L2)	XP_011523903.1:p.Gly598Val
XM_011525601.3:c.1793_1794delinsTT (AFG3L2)	XP_011523903.1:p.Gly598Val
XR_002958227.1:n.451+619_451+620delinsAA
NM_006796.3:c.1994_1995delinsTT (AFG3L2) MANE Select	NP_006787.2:p.Gly665Val