Canonical Allele Identifier: CA2630689218

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646412-G-GGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGCACTCAGGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGCACTCAGGC	GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGCACTCAGGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGCACTCAGGC	GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGCACTCAGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	ENSP00000330433.3:n.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000333202.7:c.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000330433.3:n.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000347970.7:c.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000327584.3:n.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000428002.6:c.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000402179.2:n.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000558129.5:c.333+312_333+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000558677.5:c.803+312_803+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559024.5:n.835_836insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559107.5:c.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000454131.1:n.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000559891.1:n.10_11insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000560013.5:c.*870+312_*870+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000453503.1:n.*870+312_*870+313insATGAGTGCCTGAGTGCCTGAG...
ENST00000561373.1:c.307+312_307+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000452823.1:n.307+312_307+313insATGAGTGCCTGAGTGCCTGAGTG...
NM_001307960.1:c.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.1:c.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.3:c.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.2:c.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_510883.2:n.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.3:c.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	NP_510883.2:n.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001307960.2:c.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.2:c.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+312_502+313insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.4:c.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+312_424+313insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...