Canonical Allele Identifier: CA2630688074

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646404-A-AGCACTCAGGCACTCAGGCACTCAGGCACTCTGGCACTCAGGCACTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCTGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCTGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGC	GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCTGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCTGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGC	GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCTGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	ENSP00000330433.3:n.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTG...
ENST00000333202.7:c.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000330433.3:n.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTG...
ENST00000347970.7:c.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000327584.3:n.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTG...
ENST00000428002.6:c.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000402179.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTG...
ENST00000558129.5:c.333+320_333+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000558677.5:c.803+320_803+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559024.5:n.843_844insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559107.5:c.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000454131.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTG...
ENST00000559891.1:n.18_19insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000560013.5:c.*870+320_*870+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000453503.1:n.*870+320_*870+321insCTGAGTGCCTGAGTGCCAGAG...
ENST00000561373.1:c.307+320_307+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000452823.1:n.307+320_307+321insCTGAGTGCCTGAGTGCCAGAGTG...
NM_001307960.1:c.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCT...
NM_001308026.1:c.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCT...
NM_025141.3:c.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAG...
NM_078474.2:c.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_510883.2:n.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAG...
NM_078474.3:c.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	NP_510883.2:n.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAG...
NM_001307960.2:c.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCT...
NM_001308026.2:c.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCAGAGTGCCT...
NM_025141.4:c.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCAGAGTGCCTGAG...