Canonical Allele Identifier: CA710712277
Gene: TM2D3 HGNC NCBI

Linked Data

dbSNP Id: rs1384592889

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646485_101646494del , CM000677.2:g.101646485_101646494del GRCh38
NC_000015.9:g.102186688_102186697del , CM000677.1:g.102186688_102186697del GRCh37
NC_000015.8:g.100004211_100004220del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.502+234_502+243del MANE Select ENSP00000330433.3:n.502+234_502+243del
ENST00000333202.7:c.502+234_502+243del ENSP00000330433.3:n.502+234_502+243del
ENST00000347970.7:c.424+234_424+243del ENSP00000327584.3:n.424+234_424+243del
ENST00000428002.6:c.424+234_424+243del ENSP00000402179.2:n.424+234_424+243del
ENST00000558129.5:c.333+234_333+243del
ENST00000558677.5:c.803+234_803+243del
ENST00000559024.5:n.757_766del
ENST00000559107.5:c.502+234_502+243del ENSP00000454131.1:n.502+234_502+243del
ENST00000560013.5:c.*870+234_*870+243del ENSP00000453503.1:n.*870+234_*870+243del
ENST00000561373.1:c.307+234_307+243del ENSP00000452823.1:n.307+234_307+243del
NM_001307960.1:c.424+234_424+243del NP_001294889.1:n.424+234_424+243del
NM_001308026.1:c.502+234_502+243del NP_001294955.1:n.502+234_502+243del
NM_025141.3:c.424+234_424+243del NP_079417.2:n.424+234_424+243del
NM_078474.2:c.502+234_502+243del NP_510883.2:n.502+234_502+243del
NM_078474.3:c.502+234_502+243del MANE Select NP_510883.2:n.502+234_502+243del
NM_001307960.2:c.424+234_424+243del NP_001294889.1:n.424+234_424+243del
NM_001308026.2:c.502+234_502+243del NP_001294955.1:n.502+234_502+243del
NM_025141.4:c.424+234_424+243del NP_079417.2:n.424+234_424+243del