Canonical Allele Identifier: CA2630689596
Gene: TM2D3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.101646585G>T , CM000677.2:g.101646585G>T GRCh38
NC_000015.9:g.102186788G>T , CM000677.1:g.102186788G>T GRCh37
NC_000015.8:g.100004311G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000333202.8:c.502+140C>A MANE Select ENSP00000330433.3:n.502+140C>A
ENST00000333202.7:c.502+140C>A ENSP00000330433.3:n.502+140C>A
ENST00000347970.7:c.424+140C>A ENSP00000327584.3:n.424+140C>A
ENST00000428002.6:c.424+140C>A ENSP00000402179.2:n.424+140C>A
ENST00000558129.5:c.333+140C>A
ENST00000558677.5:c.803+140C>A
ENST00000559024.5:n.663C>A
ENST00000559107.5:c.502+140C>A ENSP00000454131.1:n.502+140C>A
ENST00000560013.5:c.*870+140C>A ENSP00000453503.1:n.*870+140C>A
ENST00000561373.1:c.307+140C>A ENSP00000452823.1:n.307+140C>A
NM_001307960.1:c.424+140C>A NP_001294889.1:n.424+140C>A
NM_001308026.1:c.502+140C>A NP_001294955.1:n.502+140C>A
NM_025141.3:c.424+140C>A NP_079417.2:n.424+140C>A
NM_078474.2:c.502+140C>A NP_510883.2:n.502+140C>A
NM_078474.3:c.502+140C>A MANE Select NP_510883.2:n.502+140C>A
NM_001307960.2:c.424+140C>A NP_001294889.1:n.424+140C>A
NM_001308026.2:c.502+140C>A NP_001294955.1:n.502+140C>A
NM_025141.4:c.424+140C>A NP_079417.2:n.424+140C>A