Canonical Allele Identifier: CA2630689414

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646423-G-GGCACTCTGGCACTCAGGCAGTCAGGCACTCAGGCACGCAGGCACTCAGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646425_101646426insACTCTGGCACTCAGGCAGTCAGGCACTCAGGCACGCAGGCACTCAGGCTGC , CM000677.2:g.101646425_101646426insACTCTGGCACTCAGGCAGTCAGGCACTCAGGCACGCAGGCACTCAGGCTGC	GRCh38
NC_000015.9:g.102186628_102186629insACTCTGGCACTCAGGCAGTCAGGCACTCAGGCACGCAGGCACTCAGGCTGC , CM000677.1:g.102186628_102186629insACTCTGGCACTCAGGCAGTCAGGCACTCAGGCACGCAGGCACTCAGGCTGC	GRCh37
NC_000015.8:g.100004151_100004152insACTCTGGCACTCAGGCAGTCAGGCACTCAGGCACGCAGGCACTCAGGCTGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC MANE Select	ENSP00000330433.3:n.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGA...
ENST00000333202.7:c.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	ENSP00000330433.3:n.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGA...
ENST00000347970.7:c.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	ENSP00000327584.3:n.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGA...
ENST00000428002.6:c.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	ENSP00000402179.2:n.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGA...
ENST00000558129.5:c.333+301_333+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC
ENST00000558677.5:c.803+301_803+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC
ENST00000559024.5:n.824_825insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC
ENST00000559107.5:c.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	ENSP00000454131.1:n.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGA...
ENST00000560013.5:c.*870+301_*870+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	ENSP00000453503.1:n.*870+301_*870+302insAGCCTGAGTGCCTGCGTGCCT...
ENST00000561373.1:c.307+301_307+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	ENSP00000452823.1:n.307+301_307+302insAGCCTGAGTGCCTGCGTGCCTGA...
NM_001307960.1:c.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	NP_001294889.1:n.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTG...
NM_001308026.1:c.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	NP_001294955.1:n.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTG...
NM_025141.3:c.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	NP_079417.2:n.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCT...
NM_078474.2:c.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	NP_510883.2:n.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCT...
NM_078474.3:c.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC MANE Select	NP_510883.2:n.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCT...
NM_001307960.2:c.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	NP_001294889.1:n.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTG...
NM_001308026.2:c.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	NP_001294955.1:n.502+301_502+302insAGCCTGAGTGCCTGCGTGCCTGAGTG...
NM_025141.4:c.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCTGACTGCCTGAGTGCCAGAGTGC	NP_079417.2:n.424+301_424+302insAGCCTGAGTGCCTGCGTGCCTGAGTGCCT...