Canonical Allele Identifier: CA2630688739
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646411_101646412insTGCACTCAGGCACTCAGGCCCTCAGGCACACAGGCACTCA , CM000677.2:g.101646411_101646412insTGCACTCAGGCACTCAGGCCCTCAGGCACACAGGCACTCA GRCh38
NC_000015.9:g.102186614_102186615insTGCACTCAGGCACTCAGGCCCTCAGGCACACAGGCACTCA , CM000677.1:g.102186614_102186615insTGCACTCAGGCACTCAGGCCCTCAGGCACACAGGCACTCA GRCh37
NC_000015.8:g.100004137_100004138insTGCACTCAGGCACTCAGGCCCTCAGGCACACAGGCACTCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC MANE Select ENSP00000330433.3:n.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTG...
ENST00000333202.7:c.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC ENSP00000330433.3:n.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTG...
ENST00000347970.7:c.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC ENSP00000327584.3:n.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTG...
ENST00000428002.6:c.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC ENSP00000402179.2:n.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTG...
ENST00000558129.5:c.333+320_333+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC
ENST00000558677.5:c.803+320_803+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC
ENST00000559024.5:n.843_844insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC
ENST00000559107.5:c.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC ENSP00000454131.1:n.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTG...
ENST00000559891.1:n.18_19insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC
ENST00000560013.5:c.*870+320_*870+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC ENSP00000453503.1:n.*870+320_*870+321insCTGTGTGCCTGAGGGCCTGAG...
ENST00000561373.1:c.307+320_307+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC ENSP00000452823.1:n.307+320_307+321insCTGTGTGCCTGAGGGCCTGAGTG...
NM_001307960.1:c.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC NP_001294889.1:n.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCT...
NM_001308026.1:c.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC NP_001294955.1:n.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCT...
NM_025141.3:c.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC NP_079417.2:n.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAG...
NM_078474.2:c.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC NP_510883.2:n.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAG...
NM_078474.3:c.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC MANE Select NP_510883.2:n.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAG...
NM_001307960.2:c.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC NP_001294889.1:n.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCT...
NM_001308026.2:c.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC NP_001294955.1:n.502+320_502+321insCTGTGTGCCTGAGGGCCTGAGTGCCT...
NM_025141.4:c.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAGTGCATGAGTGC NP_079417.2:n.424+320_424+321insCTGTGTGCCTGAGGGCCTGAGTGCCTGAG...