Canonical Allele Identifier: CA2630689232
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCACGCACTCAGGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCACGCACTCAGGC GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCACGCACTCAGGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCACGCACTCAGGC GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCAGGCACTCAGGCACTCACGCACTCAGGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select ENSP00000330433.3:n.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTG...
ENST00000333202.7:c.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC ENSP00000330433.3:n.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTG...
ENST00000347970.7:c.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC ENSP00000327584.3:n.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTG...
ENST00000428002.6:c.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC ENSP00000402179.2:n.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTG...
ENST00000558129.5:c.333+312_333+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000558677.5:c.803+312_803+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559024.5:n.835_836insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559107.5:c.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC ENSP00000454131.1:n.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTG...
ENST00000559891.1:n.10_11insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000560013.5:c.*870+312_*870+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC ENSP00000453503.1:n.*870+312_*870+313insGTGAGTGCCTGAGTGCCTGAG...
ENST00000561373.1:c.307+312_307+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC ENSP00000452823.1:n.307+312_307+313insGTGAGTGCCTGAGTGCCTGAGTG...
NM_001307960.1:c.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC NP_001294889.1:n.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.1:c.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC NP_001294955.1:n.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.3:c.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC NP_079417.2:n.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.2:c.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC NP_510883.2:n.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.3:c.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select NP_510883.2:n.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001307960.2:c.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC NP_001294889.1:n.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.2:c.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC NP_001294955.1:n.502+312_502+313insGTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.4:c.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC NP_079417.2:n.424+312_424+313insGTGAGTGCCTGAGTGCCTGAGTGCCTGAG...