Canonical Allele Identifier: CA2832567077
Gene: TM2D3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646407_101646408insTTCAGGCACTCAGGCACTCAGGCACTCAGACA , CM000677.2:g.101646407_101646408insTTCAGGCACTCAGGCACTCAGGCACTCAGACA GRCh38
NC_000015.9:g.102186610_102186611insTTCAGGCACTCAGGCACTCAGGCACTCAGACA , CM000677.1:g.102186610_102186611insTTCAGGCACTCAGGCACTCAGGCACTCAGACA GRCh37
NC_000015.8:g.100004133_100004134insTTCAGGCACTCAGGCACTCAGGCACTCAGACA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG MANE Select ENSP00000330433.3:n.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGT...
ENST00000333202.7:c.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG ENSP00000330433.3:n.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGT...
ENST00000347970.7:c.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG ENSP00000327584.3:n.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGT...
ENST00000428002.6:c.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG ENSP00000402179.2:n.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGT...
ENST00000558129.5:c.333+319_333+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG
ENST00000558677.5:c.803+319_803+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG
ENST00000559024.5:n.842_843insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG
ENST00000559107.5:c.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG ENSP00000454131.1:n.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGT...
ENST00000559891.1:n.17_18insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG
ENST00000560013.5:c.*870+319_*870+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG ENSP00000453503.1:n.*870+319_*870+320insTCTGAGTGCCTGAGTGCCTGA...
ENST00000561373.1:c.307+319_307+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG ENSP00000452823.1:n.307+319_307+320insTCTGAGTGCCTGAGTGCCTGAGT...
NM_001307960.1:c.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG NP_001294889.1:n.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCC...
NM_001308026.1:c.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG NP_001294955.1:n.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCC...
NM_025141.3:c.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG NP_079417.2:n.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGA...
NM_078474.2:c.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG NP_510883.2:n.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGA...
NM_078474.3:c.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG MANE Select NP_510883.2:n.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGA...
NM_001307960.2:c.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG NP_001294889.1:n.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCC...
NM_001308026.2:c.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG NP_001294955.1:n.502+319_502+320insTCTGAGTGCCTGAGTGCCTGAGTGCC...
NM_025141.4:c.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGAATG NP_079417.2:n.424+319_424+320insTCTGAGTGCCTGAGTGCCTGAGTGCCTGA...