Canonical Allele Identifier: CA393979106
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646776G>C , CM000677.2:g.101646776G>C GRCh38
NC_000015.9:g.102186979G>C , CM000677.1:g.102186979G>C GRCh37
NC_000015.8:g.100004502G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.451C>G MANE Select ENSP00000330433.3:p.Arg151Gly
ENST00000333202.7:c.451C>G ENSP00000330433.3:p.Arg151Gly
ENST00000347970.7:c.373C>G ENSP00000327584.3:p.Arg125Gly
ENST00000428002.6:c.373C>G ENSP00000402179.2:p.Arg125Gly
ENST00000558129.5:c.282C>G
ENST00000558677.5:c.752C>G
ENST00000559024.5:n.472C>G
ENST00000559107.5:c.451C>G ENSP00000454131.1:p.Arg151Gly
ENST00000560013.5:c.*819C>G ENSP00000453503.1:n.*819C>G
ENST00000560910.5:n.393C>G
ENST00000561373.1:c.256C>G ENSP00000452823.1:p.Arg86Gly
NM_001307960.1:c.373C>G NP_001294889.1:p.Arg125Gly
NM_001308026.1:c.451C>G NP_001294955.1:p.Arg151Gly
NM_025141.3:c.373C>G NP_079417.2:p.Arg125Gly
NM_078474.2:c.451C>G NP_510883.2:p.Arg151Gly
NM_078474.3:c.451C>G MANE Select NP_510883.2:p.Arg151Gly
NM_001307960.2:c.373C>G NP_001294889.1:p.Arg125Gly
NM_001308026.2:c.451C>G NP_001294955.1:p.Arg151Gly
NM_025141.4:c.373C>G NP_079417.2:p.Arg125Gly