Canonical Allele Identifier: CA2630685500
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646401_101646402insGAAGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACT , CM000677.2:g.101646401_101646402insGAAGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACT GRCh38
NC_000015.9:g.102186604_102186605insGAAGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACT , CM000677.1:g.102186604_102186605insGAAGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACT GRCh37
NC_000015.8:g.100004127_100004128insGAAGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC MANE Select ENSP00000330433.3:n.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCT...
ENST00000333202.7:c.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC ENSP00000330433.3:n.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCT...
ENST00000347970.7:c.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC ENSP00000327584.3:n.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCT...
ENST00000428002.6:c.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC ENSP00000402179.2:n.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCT...
ENST00000558129.5:c.333+323_333+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC
ENST00000558677.5:c.803+323_803+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC
ENST00000559024.5:n.846_847insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC
ENST00000559107.5:c.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC ENSP00000454131.1:n.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCT...
ENST00000559891.1:n.21_22insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC
ENST00000560013.5:c.*870+323_*870+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC ENSP00000453503.1:n.*870+323_*870+324insAGTGCCTGAGTGCCTGAGTGC...
ENST00000561373.1:c.307+323_307+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC ENSP00000452823.1:n.307+323_307+324insAGTGCCTGAGTGCCTGAGTGCCT...
NM_001307960.1:c.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC NP_001294889.1:n.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001308026.1:c.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC NP_001294955.1:n.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_025141.3:c.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC NP_079417.2:n.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGC...
NM_078474.2:c.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC NP_510883.2:n.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGC...
NM_078474.3:c.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC MANE Select NP_510883.2:n.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGC...
NM_001307960.2:c.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC NP_001294889.1:n.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001308026.2:c.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC NP_001294955.1:n.502+323_502+324insAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_025141.4:c.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCTTC NP_079417.2:n.424+323_424+324insAGTGCCTGAGTGCCTGAGTGCCTGAGTGC...