Canonical Allele Identifier: CA973550920

Gene: TM2D3

Linked Data

• gnomAD v3: 15-101646420-G-GGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAT
• gnomAD v4: 15-101646420-G-GGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGC , CM000677.2:g.101646422_101646423insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGC	GRCh38
NC_000015.9:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGC , CM000677.1:g.102186625_102186626insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGC	GRCh37
NC_000015.8:g.100004148_100004149insACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCACTCATGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	ENSP00000330433.3:n.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000333202.7:c.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000330433.3:n.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000347970.7:c.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000327584.3:n.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000428002.6:c.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000402179.2:n.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000558129.5:c.333+304_333+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000558677.5:c.803+304_803+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559024.5:n.827_828insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000559107.5:c.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000454131.1:n.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTG...
ENST00000559891.1:n.2_3insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC
ENST00000560013.5:c.*870+304_*870+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000453503.1:n.*870+304_*870+305insATGAGTGCCTGAGTGCCTGAG...
ENST00000561373.1:c.307+304_307+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	ENSP00000452823.1:n.307+304_307+305insATGAGTGCCTGAGTGCCTGAGTG...
NM_001307960.1:c.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.1:c.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.3:c.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.2:c.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_510883.2:n.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_078474.3:c.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC MANE Select	NP_510883.2:n.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...
NM_001307960.2:c.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294889.1:n.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001308026.2:c.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_001294955.1:n.502+304_502+305insATGAGTGCCTGAGTGCCTGAGTGCCT...
NM_025141.4:c.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGC	NP_079417.2:n.424+304_424+305insATGAGTGCCTGAGTGCCTGAGTGCCTGAG...