Canonical Allele Identifier: CA393979114
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646779G>T , CM000677.2:g.101646779G>T GRCh38
NC_000015.9:g.102186982G>T , CM000677.1:g.102186982G>T GRCh37
NC_000015.8:g.100004505G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333202.8:c.448C>A MANE Select ENSP00000330433.3:p.Pro150Thr
ENST00000333202.7:c.448C>A ENSP00000330433.3:p.Pro150Thr
ENST00000347970.7:c.370C>A ENSP00000327584.3:p.Pro124Thr
ENST00000428002.6:c.370C>A ENSP00000402179.2:p.Pro124Thr
ENST00000558129.5:c.279C>A
ENST00000558677.5:c.749C>A
ENST00000559024.5:n.469C>A
ENST00000559107.5:c.448C>A ENSP00000454131.1:p.Pro150Thr
ENST00000560013.5:c.*816C>A ENSP00000453503.1:n.*816C>A
ENST00000560910.5:n.390C>A
ENST00000561373.1:c.253C>A ENSP00000452823.1:p.Pro85Thr
NM_001307960.1:c.370C>A NP_001294889.1:p.Pro124Thr
NM_001308026.1:c.448C>A NP_001294955.1:p.Pro150Thr
NM_025141.3:c.370C>A NP_079417.2:p.Pro124Thr
NM_078474.2:c.448C>A NP_510883.2:p.Pro150Thr
NM_078474.3:c.448C>A MANE Select NP_510883.2:p.Pro150Thr
NM_001307960.2:c.370C>A NP_001294889.1:p.Pro124Thr
NM_001308026.2:c.448C>A NP_001294955.1:p.Pro150Thr
NM_025141.4:c.370C>A NP_079417.2:p.Pro124Thr