Canonical Allele Identifier: CA2630688912
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646421_101646422insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGG , CM000677.2:g.101646421_101646422insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGG GRCh38
NC_000015.9:g.102186624_102186625insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGG , CM000677.1:g.102186624_102186625insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGG GRCh37
NC_000015.8:g.100004147_100004148insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC MANE Select ENSP00000330433.3:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000333202.7:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC ENSP00000330433.3:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000347970.7:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC ENSP00000327584.3:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000428002.6:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC ENSP00000402179.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000558129.5:c.333+320_333+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC
ENST00000558677.5:c.803+320_803+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC
ENST00000559024.5:n.843_844insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC
ENST00000559107.5:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC ENSP00000454131.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000559891.1:n.18_19insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC
ENST00000560013.5:c.*870+320_*870+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC ENSP00000453503.1:n.*870+320_*870+321insCTGAGTGCCTGAGTGCCTGAG...
ENST00000561373.1:c.307+320_307+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC ENSP00000452823.1:n.307+320_307+321insCTGAGTGCCTGAGTGCCTGAGTG...
NM_001307960.1:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC NP_001294889.1:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.1:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC NP_001294955.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.3:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC NP_079417.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.2:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC NP_510883.2:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.3:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC MANE Select NP_510883.2:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001307960.2:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC NP_001294889.1:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.2:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC NP_001294955.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.4:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGC NP_079417.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGAG...