Canonical Allele Identifier: CA2630689318

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646418-C-CAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGAGGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGAGGC	GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGAGGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGAGGC	GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGAGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT MANE Select	ENSP00000330433.3:n.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCC...
ENST00000333202.7:c.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	ENSP00000330433.3:n.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCC...
ENST00000347970.7:c.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	ENSP00000327584.3:n.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCC...
ENST00000428002.6:c.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	ENSP00000402179.2:n.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCC...
ENST00000558129.5:c.333+306_333+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT
ENST00000558677.5:c.803+306_803+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT
ENST00000559024.5:n.829_830insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT
ENST00000559107.5:c.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	ENSP00000454131.1:n.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCC...
ENST00000559891.1:n.4_5insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT
ENST00000560013.5:c.*870+306_*870+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	ENSP00000453503.1:n.*870+306_*870+307insCAGTGCCTGAGTGCCTGAGTG...
ENST00000561373.1:c.307+306_307+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	ENSP00000452823.1:n.307+306_307+307insCAGTGCCTGAGTGCCTGAGTGCC...
NM_001307960.1:c.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	NP_001294889.1:n.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGA...
NM_001308026.1:c.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	NP_001294955.1:n.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGA...
NM_025141.3:c.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	NP_079417.2:n.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_078474.2:c.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	NP_510883.2:n.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_078474.3:c.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT MANE Select	NP_510883.2:n.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_001307960.2:c.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	NP_001294889.1:n.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGA...
NM_001308026.2:c.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	NP_001294955.1:n.502+306_502+307insCAGTGCCTGAGTGCCTGAGTGCCTGA...
NM_025141.4:c.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCT	NP_079417.2:n.424+306_424+307insCAGTGCCTGAGTGCCTGAGTGCCTGAGTG...