Canonical Allele Identifier: CA2630689304

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646417-T-TCAGGCACTCAGGCCCTCAGGCACTCAGGCACTCAGGCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCCCTCAGGCACTCAGGCACTCAGGCACCCAGGC , CM000677.2:g.101646422_101646423insACTCAGGCCCTCAGGCACTCAGGCACTCAGGCACCCAGGC	GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCCCTCAGGCACTCAGGCACTCAGGCACCCAGGC , CM000677.1:g.102186625_102186626insACTCAGGCCCTCAGGCACTCAGGCACTCAGGCACCCAGGC	GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCCCTCAGGCACTCAGGCACTCAGGCACCCAGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG MANE Select	ENSP00000330433.3:n.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCT...
ENST00000333202.7:c.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	ENSP00000330433.3:n.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCT...
ENST00000347970.7:c.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	ENSP00000327584.3:n.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCT...
ENST00000428002.6:c.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	ENSP00000402179.2:n.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCT...
ENST00000558129.5:c.333+307_333+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG
ENST00000558677.5:c.803+307_803+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG
ENST00000559024.5:n.830_831insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG
ENST00000559107.5:c.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	ENSP00000454131.1:n.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCT...
ENST00000559891.1:n.5_6insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG
ENST00000560013.5:c.*870+307_*870+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	ENSP00000453503.1:n.*870+307_*870+308insGGTGCCTGAGTGCCTGAGTGC...
ENST00000561373.1:c.307+307_307+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	ENSP00000452823.1:n.307+307_307+308insGGTGCCTGAGTGCCTGAGTGCCT...
NM_001307960.1:c.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	NP_001294889.1:n.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001308026.1:c.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	NP_001294955.1:n.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_025141.3:c.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	NP_079417.2:n.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGC...
NM_078474.2:c.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	NP_510883.2:n.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGC...
NM_078474.3:c.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG MANE Select	NP_510883.2:n.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGC...
NM_001307960.2:c.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	NP_001294889.1:n.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001308026.2:c.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	NP_001294955.1:n.502+307_502+308insGGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_025141.4:c.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGCCTGAGTGCCTG	NP_079417.2:n.424+307_424+308insGGTGCCTGAGTGCCTGAGTGCCTGAGGGC...