Canonical Allele Identifier: CA2630689335
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCTGGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCTGGC GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCTGGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCTGGC GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCTGGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC MANE Select ENSP00000330433.3:n.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGC...
ENST00000333202.7:c.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC ENSP00000330433.3:n.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGC...
ENST00000347970.7:c.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC ENSP00000327584.3:n.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGC...
ENST00000428002.6:c.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC ENSP00000402179.2:n.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGC...
ENST00000558129.5:c.333+305_333+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000558677.5:c.803+305_803+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000559024.5:n.828_829insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000559107.5:c.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC ENSP00000454131.1:n.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGC...
ENST00000559891.1:n.3_4insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC
ENST00000560013.5:c.*870+305_*870+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC ENSP00000453503.1:n.*870+305_*870+306insAGAGTGCCTGAGTGCCTGAGT...
ENST00000561373.1:c.307+305_307+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC ENSP00000452823.1:n.307+305_307+306insAGAGTGCCTGAGTGCCTGAGTGC...
NM_001307960.1:c.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC NP_001294889.1:n.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_001308026.1:c.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC NP_001294955.1:n.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_025141.3:c.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC NP_079417.2:n.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGT...
NM_078474.2:c.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC NP_510883.2:n.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGT...
NM_078474.3:c.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC MANE Select NP_510883.2:n.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGT...
NM_001307960.2:c.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC NP_001294889.1:n.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_001308026.2:c.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC NP_001294955.1:n.502+305_502+306insAGAGTGCCTGAGTGCCTGAGTGCCTG...
NM_025141.4:c.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCC NP_079417.2:n.424+305_424+306insAGAGTGCCTGAGTGCCTGAGTGCCTGAGT...