Canonical Allele Identifier: CA393979037
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646758T>C , CM000677.2:g.101646758T>C GRCh38
NC_000015.9:g.102186961T>C , CM000677.1:g.102186961T>C GRCh37
NC_000015.8:g.100004484T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.469A>G MANE Select ENSP00000330433.3:p.Asn157Asp
ENST00000333202.7:c.469A>G ENSP00000330433.3:p.Asn157Asp
ENST00000347970.7:c.391A>G ENSP00000327584.3:p.Asn131Asp
ENST00000428002.6:c.391A>G ENSP00000402179.2:p.Asn131Asp
ENST00000558129.5:c.300A>G
ENST00000558677.5:c.770A>G
ENST00000559024.5:n.490A>G
ENST00000559107.5:c.469A>G ENSP00000454131.1:p.Asn157Asp
ENST00000560013.5:c.*837A>G ENSP00000453503.1:n.*837A>G
ENST00000560910.5:n.411A>G
ENST00000561373.1:c.274A>G ENSP00000452823.1:p.Asn92Asp
NM_001307960.1:c.391A>G NP_001294889.1:p.Asn131Asp
NM_001308026.1:c.469A>G NP_001294955.1:p.Asn157Asp
NM_025141.3:c.391A>G NP_079417.2:p.Asn131Asp
NM_078474.2:c.469A>G NP_510883.2:p.Asn157Asp
NM_078474.3:c.469A>G MANE Select NP_510883.2:p.Asn157Asp
NM_001307960.2:c.391A>G NP_001294889.1:p.Asn131Asp
NM_001308026.2:c.469A>G NP_001294955.1:p.Asn157Asp
NM_025141.4:c.391A>G NP_079417.2:p.Asn131Asp