Canonical Allele Identifier: CA2630688859

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646404-A-AGCACTCAGGCACACAGGCACTCAGGCACTCAGGCACTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646416_101646417insACAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCAC , CM000677.2:g.101646416_101646417insACAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCAC	GRCh38
NC_000015.9:g.102186619_102186620insACAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCAC , CM000677.1:g.102186619_102186620insACAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCAC	GRCh37
NC_000015.8:g.100004142_100004143insACAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC MANE Select	ENSP00000330433.3:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000333202.7:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	ENSP00000330433.3:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000347970.7:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	ENSP00000327584.3:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000428002.6:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	ENSP00000402179.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000558129.5:c.333+320_333+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC
ENST00000558677.5:c.803+320_803+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC
ENST00000559024.5:n.843_844insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC
ENST00000559107.5:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	ENSP00000454131.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTG...
ENST00000559891.1:n.18_19insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC
ENST00000560013.5:c.*870+320_*870+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	ENSP00000453503.1:n.*870+320_*870+321insCTGAGTGCCTGAGTGCCTGAG...
ENST00000561373.1:c.307+320_307+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	ENSP00000452823.1:n.307+320_307+321insCTGAGTGCCTGAGTGCCTGAGTG...
NM_001307960.1:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	NP_001294889.1:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.1:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	NP_001294955.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.3:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	NP_079417.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTG...
NM_078474.2:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	NP_510883.2:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTG...
NM_078474.3:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC MANE Select	NP_510883.2:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTG...
NM_001307960.2:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	NP_001294889.1:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.2:c.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	NP_001294955.1:n.502+320_502+321insCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.4:c.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTGTGCCTGAGTGC	NP_079417.2:n.424+320_424+321insCTGAGTGCCTGAGTGCCTGAGTGCCTGTG...