Canonical Allele Identifier: CA2805490120

Gene: TM2D3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646420_101646421insTCACTCA , CM000677.2:g.101646420_101646421insTCACTCA	GRCh38
NC_000015.9:g.102186623_102186624insTCACTCA , CM000677.1:g.102186623_102186624insTCACTCA	GRCh37
NC_000015.8:g.100004146_100004147insTCACTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+304_502+305insTGAGTGA MANE Select	ENSP00000330433.3:n.502+304_502+305insTGAGTGA
ENST00000333202.7:c.502+304_502+305insTGAGTGA	ENSP00000330433.3:n.502+304_502+305insTGAGTGA
ENST00000347970.7:c.424+304_424+305insTGAGTGA	ENSP00000327584.3:n.424+304_424+305insTGAGTGA
ENST00000428002.6:c.424+304_424+305insTGAGTGA	ENSP00000402179.2:n.424+304_424+305insTGAGTGA
ENST00000558129.5:c.333+304_333+305insTGAGTGA
ENST00000558677.5:c.803+304_803+305insTGAGTGA
ENST00000559024.5:n.827_828insTGAGTGA
ENST00000559107.5:c.502+304_502+305insTGAGTGA	ENSP00000454131.1:n.502+304_502+305insTGAGTGA
ENST00000559891.1:n.2_3insTGAGTGA
ENST00000560013.5:c.*870+304_*870+305insTGAGTGA	ENSP00000453503.1:n.*870+304_*870+305insTGAGTGA
ENST00000561373.1:c.307+304_307+305insTGAGTGA	ENSP00000452823.1:n.307+304_307+305insTGAGTGA
NM_001307960.1:c.424+304_424+305insTGAGTGA	NP_001294889.1:n.424+304_424+305insTGAGTGA
NM_001308026.1:c.502+304_502+305insTGAGTGA	NP_001294955.1:n.502+304_502+305insTGAGTGA
NM_025141.3:c.424+304_424+305insTGAGTGA	NP_079417.2:n.424+304_424+305insTGAGTGA
NM_078474.2:c.502+304_502+305insTGAGTGA	NP_510883.2:n.502+304_502+305insTGAGTGA
NM_078474.3:c.502+304_502+305insTGAGTGA MANE Select	NP_510883.2:n.502+304_502+305insTGAGTGA
NM_001307960.2:c.424+304_424+305insTGAGTGA	NP_001294889.1:n.424+304_424+305insTGAGTGA
NM_001308026.2:c.502+304_502+305insTGAGTGA	NP_001294955.1:n.502+304_502+305insTGAGTGA
NM_025141.4:c.424+304_424+305insTGAGTGA	NP_079417.2:n.424+304_424+305insTGAGTGA