Canonical Allele Identifier: CA2630689273

Gene: TM2D3

Linked Data

• gnomAD v4: 15-101646415-A-ACTCGGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646418_101646419insGGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCCCTC , CM000677.2:g.101646418_101646419insGGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCCCTC	GRCh38
NC_000015.9:g.102186621_102186622insGGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCCCTC , CM000677.1:g.102186621_102186622insGGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCCCTC	GRCh37
NC_000015.8:g.100004144_100004145insGGGCACTCAGGCACTCAGGCACTCAGGCACTCAGGCCCTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG MANE Select	ENSP00000330433.3:n.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGA...
ENST00000333202.7:c.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	ENSP00000330433.3:n.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGA...
ENST00000347970.7:c.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	ENSP00000327584.3:n.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGA...
ENST00000428002.6:c.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	ENSP00000402179.2:n.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGA...
ENST00000558129.5:c.333+309_333+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG
ENST00000558677.5:c.803+309_803+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG
ENST00000559024.5:n.832_833insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG
ENST00000559107.5:c.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	ENSP00000454131.1:n.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGA...
ENST00000559891.1:n.7_8insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG
ENST00000560013.5:c.*870+309_*870+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	ENSP00000453503.1:n.*870+309_*870+310insGGCCTGAGTGCCTGAGTGCCT...
ENST00000561373.1:c.307+309_307+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	ENSP00000452823.1:n.307+309_307+310insGGCCTGAGTGCCTGAGTGCCTGA...
NM_001307960.1:c.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	NP_001294889.1:n.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_001308026.1:c.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	NP_001294955.1:n.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_025141.3:c.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	NP_079417.2:n.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_078474.2:c.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	NP_510883.2:n.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_078474.3:c.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG MANE Select	NP_510883.2:n.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCT...
NM_001307960.2:c.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	NP_001294889.1:n.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_001308026.2:c.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	NP_001294955.1:n.502+309_502+310insGGCCTGAGTGCCTGAGTGCCTGAGTG...
NM_025141.4:c.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCTGAGTGCCCGAG	NP_079417.2:n.424+309_424+310insGGCCTGAGTGCCTGAGTGCCTGAGTGCCT...