Canonical Allele Identifier: CA2630689209

Gene: TM2D3

Linked Data

• dbSNP Id: rs1896808757
• gnomAD v4: 15-101646411-A-AGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCCGGCACTCAGGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCCGGCACTCAGGC	GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCCGGCACTCAGGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCCGGCACTCAGGC	GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCAGGCACTCAGGCACTCCGGCACTCAGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC MANE Select	ENSP00000330433.3:n.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGC...
ENST00000333202.7:c.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	ENSP00000330433.3:n.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGC...
ENST00000347970.7:c.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	ENSP00000327584.3:n.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGC...
ENST00000428002.6:c.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	ENSP00000402179.2:n.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGC...
ENST00000558129.5:c.333+313_333+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000558677.5:c.803+313_803+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000559024.5:n.836_837insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000559107.5:c.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	ENSP00000454131.1:n.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGC...
ENST00000559891.1:n.11_12insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000560013.5:c.*870+313_*870+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	ENSP00000453503.1:n.*870+313_*870+314insGGAGTGCCTGAGTGCCTGAGT...
ENST00000561373.1:c.307+313_307+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	ENSP00000452823.1:n.307+313_307+314insGGAGTGCCTGAGTGCCTGAGTGC...
NM_001307960.1:c.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	NP_001294889.1:n.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_001308026.1:c.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	NP_001294955.1:n.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_025141.3:c.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	NP_079417.2:n.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGT...
NM_078474.2:c.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	NP_510883.2:n.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGT...
NM_078474.3:c.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC MANE Select	NP_510883.2:n.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGT...
NM_001307960.2:c.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	NP_001294889.1:n.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_001308026.2:c.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	NP_001294955.1:n.502+313_502+314insGGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_025141.4:c.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC	NP_079417.2:n.424+313_424+314insGGAGTGCCTGAGTGCCTGAGTGCCTGAGT...