Canonical Allele Identifier: CA2805490142
Gene: TM2D3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646431_101646432insCA , CM000677.2:g.101646431_101646432insCA GRCh38
NC_000015.9:g.102186634_102186635insCA , CM000677.1:g.102186634_102186635insCA GRCh37
NC_000015.8:g.100004157_100004158insCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+293_502+294insTG MANE Select ENSP00000330433.3:n.502+293_502+294insTG
ENST00000333202.7:c.502+293_502+294insTG ENSP00000330433.3:n.502+293_502+294insTG
ENST00000347970.7:c.424+293_424+294insTG ENSP00000327584.3:n.424+293_424+294insTG
ENST00000428002.6:c.424+293_424+294insTG ENSP00000402179.2:n.424+293_424+294insTG
ENST00000558129.5:c.333+293_333+294insTG
ENST00000558677.5:c.803+293_803+294insTG
ENST00000559024.5:n.816_817insTG
ENST00000559107.5:c.502+293_502+294insTG ENSP00000454131.1:n.502+293_502+294insTG
ENST00000560013.5:c.*870+293_*870+294insTG ENSP00000453503.1:n.*870+293_*870+294insTG
ENST00000561373.1:c.307+293_307+294insTG ENSP00000452823.1:n.307+293_307+294insTG
NM_001307960.1:c.424+293_424+294insTG NP_001294889.1:n.424+293_424+294insTG
NM_001308026.1:c.502+293_502+294insTG NP_001294955.1:n.502+293_502+294insTG
NM_025141.3:c.424+293_424+294insTG NP_079417.2:n.424+293_424+294insTG
NM_078474.2:c.502+293_502+294insTG NP_510883.2:n.502+293_502+294insTG
NM_078474.3:c.502+293_502+294insTG MANE Select NP_510883.2:n.502+293_502+294insTG
NM_001307960.2:c.424+293_424+294insTG NP_001294889.1:n.424+293_424+294insTG
NM_001308026.2:c.502+293_502+294insTG NP_001294955.1:n.502+293_502+294insTG
NM_025141.4:c.424+293_424+294insTG NP_079417.2:n.424+293_424+294insTG