Canonical Allele Identifier: CA2805490109

Gene: TM2D3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646413_101646414insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGATG , CM000677.2:g.101646413_101646414insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGATG	GRCh38
NC_000015.9:g.102186616_102186617insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGATG , CM000677.1:g.102186616_102186617insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGATG	GRCh37
NC_000015.8:g.100004139_100004140insAACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTGATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC MANE Select	ENSP00000330433.3:n.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTG...
ENST00000333202.7:c.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	ENSP00000330433.3:n.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTG...
ENST00000347970.7:c.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	ENSP00000327584.3:n.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTG...
ENST00000428002.6:c.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	ENSP00000402179.2:n.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTG...
ENST00000558129.5:c.333+312_333+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC
ENST00000558677.5:c.803+312_803+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC
ENST00000559024.5:n.835_836insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC
ENST00000559107.5:c.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	ENSP00000454131.1:n.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTG...
ENST00000559891.1:n.10_11insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC
ENST00000560013.5:c.*870+312_*870+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	ENSP00000453503.1:n.*870+312_*870+313insATCAGTGCCTGAGTGCCTGAG...
ENST00000561373.1:c.307+312_307+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	ENSP00000452823.1:n.307+312_307+313insATCAGTGCCTGAGTGCCTGAGTG...
NM_001307960.1:c.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	NP_001294889.1:n.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.1:c.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	NP_001294955.1:n.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.3:c.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	NP_079417.2:n.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.2:c.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	NP_510883.2:n.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.3:c.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC MANE Select	NP_510883.2:n.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001307960.2:c.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	NP_001294889.1:n.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.2:c.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	NP_001294955.1:n.502+312_502+313insATCAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.4:c.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTTC	NP_079417.2:n.424+312_424+313insATCAGTGCCTGAGTGCCTGAGTGCCTGAG...