Canonical Allele Identifier: CA2805490136

Gene: TM2D3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646425_101646426insACTCAGTCACTCAAGCACTCAGGCACTCAGCCGTC , CM000677.2:g.101646425_101646426insACTCAGTCACTCAAGCACTCAGGCACTCAGCCGTC	GRCh38
NC_000015.9:g.102186628_102186629insACTCAGTCACTCAAGCACTCAGGCACTCAGCCGTC , CM000677.1:g.102186628_102186629insACTCAGTCACTCAAGCACTCAGGCACTCAGCCGTC	GRCh37
NC_000015.8:g.100004151_100004152insACTCAGTCACTCAAGCACTCAGGCACTCAGCCGTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG MANE Select	ENSP00000330433.3:n.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTG...
ENST00000333202.7:c.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	ENSP00000330433.3:n.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTG...
ENST00000347970.7:c.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	ENSP00000327584.3:n.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTG...
ENST00000428002.6:c.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	ENSP00000402179.2:n.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTG...
ENST00000558129.5:c.333+300_333+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG
ENST00000558677.5:c.803+300_803+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG
ENST00000559024.5:n.823_824insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG
ENST00000559107.5:c.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	ENSP00000454131.1:n.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTG...
ENST00000560013.5:c.*870+300_*870+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	ENSP00000453503.1:n.*870+300_*870+301insACGGCTGAGTGCCTGAGTGCT...
ENST00000561373.1:c.307+300_307+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	ENSP00000452823.1:n.307+300_307+301insACGGCTGAGTGCCTGAGTGCTTG...
NM_001307960.1:c.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	NP_001294889.1:n.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGT...
NM_001308026.1:c.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	NP_001294955.1:n.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGT...
NM_025141.3:c.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	NP_079417.2:n.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGAC...
NM_078474.2:c.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	NP_510883.2:n.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGAC...
NM_078474.3:c.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG MANE Select	NP_510883.2:n.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGAC...
NM_001307960.2:c.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	NP_001294889.1:n.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGT...
NM_001308026.2:c.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	NP_001294955.1:n.502+300_502+301insACGGCTGAGTGCCTGAGTGCTTGAGT...
NM_025141.4:c.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGACTGAGTG	NP_079417.2:n.424+300_424+301insACGGCTGAGTGCCTGAGTGCTTGAGTGAC...