Canonical Allele Identifier: CA2630689295
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646422_101646423insACTAAGGCACTCAGGCACTCAGGCAATCAGGC , CM000677.2:g.101646422_101646423insACTAAGGCACTCAGGCACTCAGGCAATCAGGC GRCh38
NC_000015.9:g.102186625_102186626insACTAAGGCACTCAGGCACTCAGGCAATCAGGC , CM000677.1:g.102186625_102186626insACTAAGGCACTCAGGCACTCAGGCAATCAGGC GRCh37
NC_000015.8:g.100004148_100004149insACTAAGGCACTCAGGCACTCAGGCAATCAGGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA MANE Select ENSP00000330433.3:n.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTT...
ENST00000333202.7:c.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA ENSP00000330433.3:n.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTT...
ENST00000347970.7:c.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA ENSP00000327584.3:n.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTT...
ENST00000428002.6:c.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA ENSP00000402179.2:n.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTT...
ENST00000558129.5:c.333+308_333+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA
ENST00000558677.5:c.803+308_803+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA
ENST00000559024.5:n.831_832insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA
ENST00000559107.5:c.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA ENSP00000454131.1:n.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTT...
ENST00000559891.1:n.6_7insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA
ENST00000560013.5:c.*870+308_*870+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA ENSP00000453503.1:n.*870+308_*870+309insTTGCCTGAGTGCCTGAGTGCC...
ENST00000561373.1:c.307+308_307+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA ENSP00000452823.1:n.307+308_307+309insTTGCCTGAGTGCCTGAGTGCCTT...
NM_001307960.1:c.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA NP_001294889.1:n.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGT...
NM_001308026.1:c.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA NP_001294955.1:n.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGT...
NM_025141.3:c.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA NP_079417.2:n.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCC...
NM_078474.2:c.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA NP_510883.2:n.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCC...
NM_078474.3:c.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA MANE Select NP_510883.2:n.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCC...
NM_001307960.2:c.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA NP_001294889.1:n.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGT...
NM_001308026.2:c.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA NP_001294955.1:n.502+308_502+309insTTGCCTGAGTGCCTGAGTGCCTTAGT...
NM_025141.4:c.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCCTGA NP_079417.2:n.424+308_424+309insTTGCCTGAGTGCCTGAGTGCCTTAGTGCC...