Canonical Allele Identifier: CA2630689463
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646426_101646427insCTCAGGCGGCA , CM000677.2:g.101646426_101646427insCTCAGGCGGCA GRCh38
NC_000015.9:g.102186629_102186630insCTCAGGCGGCA , CM000677.1:g.102186629_102186630insCTCAGGCGGCA GRCh37
NC_000015.8:g.100004152_100004153insCTCAGGCGGCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+298_502+299insTGCCGCCTGAG MANE Select ENSP00000330433.3:n.502+298_502+299insTGCCGCCTGAG
ENST00000333202.7:c.502+298_502+299insTGCCGCCTGAG ENSP00000330433.3:n.502+298_502+299insTGCCGCCTGAG
ENST00000347970.7:c.424+298_424+299insTGCCGCCTGAG ENSP00000327584.3:n.424+298_424+299insTGCCGCCTGAG
ENST00000428002.6:c.424+298_424+299insTGCCGCCTGAG ENSP00000402179.2:n.424+298_424+299insTGCCGCCTGAG
ENST00000558129.5:c.333+298_333+299insTGCCGCCTGAG
ENST00000558677.5:c.803+298_803+299insTGCCGCCTGAG
ENST00000559024.5:n.821_822insTGCCGCCTGAG
ENST00000559107.5:c.502+298_502+299insTGCCGCCTGAG ENSP00000454131.1:n.502+298_502+299insTGCCGCCTGAG
ENST00000560013.5:c.*870+298_*870+299insTGCCGCCTGAG ENSP00000453503.1:n.*870+298_*870+299insTGCCGCCTGAG
ENST00000561373.1:c.307+298_307+299insTGCCGCCTGAG ENSP00000452823.1:n.307+298_307+299insTGCCGCCTGAG
NM_001307960.1:c.424+298_424+299insTGCCGCCTGAG NP_001294889.1:n.424+298_424+299insTGCCGCCTGAG
NM_001308026.1:c.502+298_502+299insTGCCGCCTGAG NP_001294955.1:n.502+298_502+299insTGCCGCCTGAG
NM_025141.3:c.424+298_424+299insTGCCGCCTGAG NP_079417.2:n.424+298_424+299insTGCCGCCTGAG
NM_078474.2:c.502+298_502+299insTGCCGCCTGAG NP_510883.2:n.502+298_502+299insTGCCGCCTGAG
NM_078474.3:c.502+298_502+299insTGCCGCCTGAG MANE Select NP_510883.2:n.502+298_502+299insTGCCGCCTGAG
NM_001307960.2:c.424+298_424+299insTGCCGCCTGAG NP_001294889.1:n.424+298_424+299insTGCCGCCTGAG
NM_001308026.2:c.502+298_502+299insTGCCGCCTGAG NP_001294955.1:n.502+298_502+299insTGCCGCCTGAG
NM_025141.4:c.424+298_424+299insTGCCGCCTGAG NP_079417.2:n.424+298_424+299insTGCCGCCTGAG