Canonical Allele Identifier: CA628223159

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs1412902299
• gnomAD v2: 18-12337533-A-ATTTGGGCATATGCAC
• MyVariant Identifiers: chr18:g.12337533_12337534insTTTGGGCATATGCAC (hg19) ; chr18:g.12337534_12337535insTTTGGGCATATGCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337535_12337536insTTGGGCATATGCACT , CM000680.2:g.12337535_12337536insTTGGGCATATGCACT	GRCh38
NC_000018.9:g.12337534_12337535insTTGGGCATATGCACT , CM000680.1:g.12337534_12337535insTTGGGCATATGCACT	GRCh37
NC_000018.8:g.12327534_12327535insTTGGGCATATGCACT	NCBI36
NG_023361.1:g.44742_44743insGTGCATATGCCCAAA , LRG_666:g.44742_44743insGTGCATATGCCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577_*1578insGTGCATATGCCCAAA (AFG3L2)	ENSP00000508998.1:n.*1577_*1578insGTGCATATGCCCAAA
ENST00000687477.1:n.517_518insGTGCATATGCCCAAA (AFG3L2)
ENST00000688199.1:c.1843_1844insGTGCATATGCCCAAA (AFG3L2)	ENSP00000510237.1:p.Gln614_Ile615insSerAlaTyrAlaGln
ENST00000691179.1:c.1906_1907insGTGCATATGCCCAAA (AFG3L2)	ENSP00000509010.1:p.Gln635_Ile636insSerAlaTyrAlaGln
ENST00000691970.1:c.*1358_*1359insGTGCATATGCCCAAA (AFG3L2)	ENSP00000508440.1:n.*1358_*1359insGTGCATATGCCCAAA
ENST00000692497.1:c.*411_*412insGTGCATATGCCCAAA (AFG3L2)	ENSP00000509870.1:n.*411_*412insGTGCATATGCCCAAA
ENST00000692988.1:n.1799_1800insGTGCATATGCCCAAA (AFG3L2)
ENST00000269143.8:c.1981_1982insGTGCATATGCCCAAA (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln660_Ile661insSerAlaTyrAlaGln
ENST00000269143.7:c.1981_1982insGTGCATATGCCCAAA (AFG3L2)	ENSP00000269143.2:p.Gln660_Ile661insSerAlaTyrAlaGln
ENST00000586691.1:c.88-6514_88-6513insTTGGGCATATGCACT (TUBB6)
NM_006796.2:c.1981_1982insGTGCATATGCCCAAA , LRG_666t1:c.1981_1982insGTGCATATGCCCAAA (AFG3L2)	NP_006787.2:p.Gln660_Ile661insSerAlaTyrAlaGln
XM_011525601.1:c.1780_1781insGTGCATATGCCCAAA (AFG3L2)	XP_011523903.1:p.Lys593_Ile594insSerAlaTyrAlaGln
XM_011525601.3:c.1780_1781insGTGCATATGCCCAAA (AFG3L2)	XP_011523903.1:p.Lys593_Ile594insSerAlaTyrAlaGln
XR_002958227.1:n.451+633_451+634insTTGGGCATATGCACT
NM_006796.3:c.1981_1982insGTGCATATGCCCAAA (AFG3L2) MANE Select	NP_006787.2:p.Gln660_Ile661insSerAlaTyrAlaGln