Canonical Allele Identifier: CA2805490099
Gene: TM2D3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGAACTCAGGCACTCAGGCAATCAGGCACTCAGGC , CM000677.2:g.101646422_101646423insACTCAGGAACTCAGGCACTCAGGCAATCAGGCACTCAGGC GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGAACTCAGGCACTCAGGCAATCAGGCACTCAGGC , CM000677.1:g.102186625_102186626insACTCAGGAACTCAGGCACTCAGGCAATCAGGCACTCAGGC GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGAACTCAGGCACTCAGGCAATCAGGCACTCAGGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA MANE Select ENSP00000330433.3:n.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTG...
ENST00000333202.7:c.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA ENSP00000330433.3:n.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTG...
ENST00000347970.7:c.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA ENSP00000327584.3:n.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTG...
ENST00000428002.6:c.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA ENSP00000402179.2:n.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTG...
ENST00000558129.5:c.333+316_333+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA
ENST00000558677.5:c.803+316_803+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA
ENST00000559024.5:n.839_840insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA
ENST00000559107.5:c.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA ENSP00000454131.1:n.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTG...
ENST00000559891.1:n.14_15insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA
ENST00000560013.5:c.*870+316_*870+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA ENSP00000453503.1:n.*870+316_*870+317insTTGCCTGAGTGCCTGAGTTCC...
ENST00000561373.1:c.307+316_307+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA ENSP00000452823.1:n.307+316_307+317insTTGCCTGAGTGCCTGAGTTCCTG...
NM_001307960.1:c.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA NP_001294889.1:n.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGT...
NM_001308026.1:c.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA NP_001294955.1:n.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGT...
NM_025141.3:c.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA NP_079417.2:n.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCC...
NM_078474.2:c.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA NP_510883.2:n.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCC...
NM_078474.3:c.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA MANE Select NP_510883.2:n.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCC...
NM_001307960.2:c.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA NP_001294889.1:n.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGT...
NM_001308026.2:c.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA NP_001294955.1:n.502+316_502+317insTTGCCTGAGTGCCTGAGTTCCTGAGT...
NM_025141.4:c.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCCTGAGTGCCTGA NP_079417.2:n.424+316_424+317insTTGCCTGAGTGCCTGAGTTCCTGAGTGCC...