Canonical Allele Identifier: CA2630689418

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646423-G-GGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646425_101646426insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCTGC , CM000677.2:g.101646425_101646426insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCTGC	GRCh38
NC_000015.9:g.102186628_102186629insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCTGC , CM000677.1:g.102186628_102186629insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCTGC	GRCh37
NC_000015.8:g.100004151_100004152insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCTGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	ENSP00000330433.3:n.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGA...
ENST00000333202.7:c.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000330433.3:n.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGA...
ENST00000347970.7:c.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000327584.3:n.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGA...
ENST00000428002.6:c.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000402179.2:n.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGA...
ENST00000558129.5:c.333+301_333+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000558677.5:c.803+301_803+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559024.5:n.824_825insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559107.5:c.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000454131.1:n.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGA...
ENST00000560013.5:c.*870+301_*870+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000453503.1:n.*870+301_*870+302insAGCCTGAGTGCCTGAGTGCCT...
ENST00000561373.1:c.307+301_307+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000452823.1:n.307+301_307+302insAGCCTGAGTGCCTGAGTGCCTGA...
NM_001307960.1:c.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_001308026.1:c.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_025141.3:c.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_078474.2:c.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_510883.2:n.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_078474.3:c.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	NP_510883.2:n.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001307960.2:c.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_001308026.2:c.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+301_502+302insAGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_025141.4:c.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+301_424+302insAGCCTGAGTGCCTGAGTGCCTGAGTGCCT...