Canonical Allele Identifier: CA393979126

Gene: TM2D3

Linked Data

• MyVariant Identifiers: chr15:g.102186984C>T (hg19) ; chr15:g.101646781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646781C>T , CM000677.2:g.101646781C>T	GRCh38
NC_000015.9:g.102186984C>T , CM000677.1:g.102186984C>T	GRCh37
NC_000015.8:g.100004507C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.446G>A MANE Select	ENSP00000330433.3:p.Cys149Tyr
ENST00000333202.7:c.446G>A	ENSP00000330433.3:p.Cys149Tyr
ENST00000347970.7:c.368G>A	ENSP00000327584.3:p.Cys123Tyr
ENST00000428002.6:c.368G>A	ENSP00000402179.2:p.Cys123Tyr
ENST00000558129.5:c.277G>A
ENST00000558677.5:c.747G>A
ENST00000559024.5:n.467G>A
ENST00000559107.5:c.446G>A	ENSP00000454131.1:p.Cys149Tyr
ENST00000560013.5:c.*814G>A	ENSP00000453503.1:n.*814G>A
ENST00000560910.5:n.388G>A
ENST00000561373.1:c.251G>A	ENSP00000452823.1:p.Cys84Tyr
NM_001307960.1:c.368G>A	NP_001294889.1:p.Cys123Tyr
NM_001308026.1:c.446G>A	NP_001294955.1:p.Cys149Tyr
NM_025141.3:c.368G>A	NP_079417.2:p.Cys123Tyr
NM_078474.2:c.446G>A	NP_510883.2:p.Cys149Tyr
NM_078474.3:c.446G>A MANE Select	NP_510883.2:p.Cys149Tyr
NM_001307960.2:c.368G>A	NP_001294889.1:p.Cys123Tyr
NM_001308026.2:c.446G>A	NP_001294955.1:p.Cys149Tyr
NM_025141.4:c.368G>A	NP_079417.2:p.Cys123Tyr