Canonical Allele Identifier: CA2630689139

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646406-C-CACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGGACTCAGGCACTCAGGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGGACTCAGGCACTCAGGC	GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGGACTCAGGCACTCAGGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGGACTCAGGCACTCAGGC	GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCAGGCACTCAGGCACTCAGGGACTCAGGCACTCAGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT MANE Select	ENSP00000330433.3:n.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAG...
ENST00000333202.7:c.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	ENSP00000330433.3:n.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAG...
ENST00000347970.7:c.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	ENSP00000327584.3:n.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAG...
ENST00000428002.6:c.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	ENSP00000402179.2:n.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAG...
ENST00000558129.5:c.333+318_333+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT
ENST00000558677.5:c.803+318_803+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT
ENST00000559024.5:n.841_842insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT
ENST00000559107.5:c.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	ENSP00000454131.1:n.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAG...
ENST00000559891.1:n.16_17insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT
ENST00000560013.5:c.*870+318_*870+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	ENSP00000453503.1:n.*870+318_*870+319insCCCTGAGTGCCTGAGTGCCTG...
ENST00000561373.1:c.307+318_307+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	ENSP00000452823.1:n.307+318_307+319insCCCTGAGTGCCTGAGTGCCTGAG...
NM_001307960.1:c.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	NP_001294889.1:n.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGC...
NM_001308026.1:c.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	NP_001294955.1:n.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGC...
NM_025141.3:c.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	NP_079417.2:n.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_078474.2:c.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	NP_510883.2:n.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_078474.3:c.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT MANE Select	NP_510883.2:n.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_001307960.2:c.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	NP_001294889.1:n.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGC...
NM_001308026.2:c.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	NP_001294955.1:n.502+318_502+319insCCCTGAGTGCCTGAGTGCCTGAGTGC...
NM_025141.4:c.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGT	NP_079417.2:n.424+318_424+319insCCCTGAGTGCCTGAGTGCCTGAGTGCCTG...