Canonical Allele Identifier: CA2630689503
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646449_101646452del , CM000677.2:g.101646449_101646452del GRCh38
NC_000015.9:g.102186652_102186655del , CM000677.1:g.102186652_102186655del GRCh37
NC_000015.8:g.100004175_100004178del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+275_502+278del MANE Select ENSP00000330433.3:n.502+275_502+278del
ENST00000333202.7:c.502+275_502+278del ENSP00000330433.3:n.502+275_502+278del
ENST00000347970.7:c.424+275_424+278del ENSP00000327584.3:n.424+275_424+278del
ENST00000428002.6:c.424+275_424+278del ENSP00000402179.2:n.424+275_424+278del
ENST00000558129.5:c.333+275_333+278del
ENST00000558677.5:c.803+275_803+278del
ENST00000559024.5:n.798_801del
ENST00000559107.5:c.502+275_502+278del ENSP00000454131.1:n.502+275_502+278del
ENST00000560013.5:c.*870+275_*870+278del ENSP00000453503.1:n.*870+275_*870+278del
ENST00000561373.1:c.307+275_307+278del ENSP00000452823.1:n.307+275_307+278del
NM_001307960.1:c.424+275_424+278del NP_001294889.1:n.424+275_424+278del
NM_001308026.1:c.502+275_502+278del NP_001294955.1:n.502+275_502+278del
NM_025141.3:c.424+275_424+278del NP_079417.2:n.424+275_424+278del
NM_078474.2:c.502+275_502+278del NP_510883.2:n.502+275_502+278del
NM_078474.3:c.502+275_502+278del MANE Select NP_510883.2:n.502+275_502+278del
NM_001307960.2:c.424+275_424+278del NP_001294889.1:n.424+275_424+278del
NM_001308026.2:c.502+275_502+278del NP_001294955.1:n.502+275_502+278del
NM_025141.4:c.424+275_424+278del NP_079417.2:n.424+275_424+278del