Canonical Allele Identifier: CA2805490146
Gene: TM2D3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646459_101646460del , CM000677.2:g.101646459_101646460del GRCh38
NC_000015.9:g.102186662_102186663del , CM000677.1:g.102186662_102186663del GRCh37
NC_000015.8:g.100004185_100004186del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+267_502+268del MANE Select ENSP00000330433.3:n.502+267_502+268del
ENST00000333202.7:c.502+267_502+268del ENSP00000330433.3:n.502+267_502+268del
ENST00000347970.7:c.424+267_424+268del ENSP00000327584.3:n.424+267_424+268del
ENST00000428002.6:c.424+267_424+268del ENSP00000402179.2:n.424+267_424+268del
ENST00000558129.5:c.333+267_333+268del
ENST00000558677.5:c.803+267_803+268del
ENST00000559024.5:n.790_791del
ENST00000559107.5:c.502+267_502+268del ENSP00000454131.1:n.502+267_502+268del
ENST00000560013.5:c.*870+267_*870+268del ENSP00000453503.1:n.*870+267_*870+268del
ENST00000561373.1:c.307+267_307+268del ENSP00000452823.1:n.307+267_307+268del
NM_001307960.1:c.424+267_424+268del NP_001294889.1:n.424+267_424+268del
NM_001308026.1:c.502+267_502+268del NP_001294955.1:n.502+267_502+268del
NM_025141.3:c.424+267_424+268del NP_079417.2:n.424+267_424+268del
NM_078474.2:c.502+267_502+268del NP_510883.2:n.502+267_502+268del
NM_078474.3:c.502+267_502+268del MANE Select NP_510883.2:n.502+267_502+268del
NM_001307960.2:c.424+267_424+268del NP_001294889.1:n.424+267_424+268del
NM_001308026.2:c.502+267_502+268del NP_001294955.1:n.502+267_502+268del
NM_025141.4:c.424+267_424+268del NP_079417.2:n.424+267_424+268del