Canonical Allele Identifier: CA393979117

Gene: TM2D3

Linked Data

• MyVariant Identifiers: chr15:g.102186983A>C (hg19) ; chr15:g.101646780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646780A>C , CM000677.2:g.101646780A>C	GRCh38
NC_000015.9:g.102186983A>C , CM000677.1:g.102186983A>C	GRCh37
NC_000015.8:g.100004506A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.447T>G MANE Select	ENSP00000330433.3:p.Cys149Trp
ENST00000333202.7:c.447T>G	ENSP00000330433.3:p.Cys149Trp
ENST00000347970.7:c.369T>G	ENSP00000327584.3:p.Cys123Trp
ENST00000428002.6:c.369T>G	ENSP00000402179.2:p.Cys123Trp
ENST00000558129.5:c.278T>G
ENST00000558677.5:c.748T>G
ENST00000559024.5:n.468T>G
ENST00000559107.5:c.447T>G	ENSP00000454131.1:p.Cys149Trp
ENST00000560013.5:c.*815T>G	ENSP00000453503.1:n.*815T>G
ENST00000560910.5:n.389T>G
ENST00000561373.1:c.252T>G	ENSP00000452823.1:p.Cys84Trp
NM_001307960.1:c.369T>G	NP_001294889.1:p.Cys123Trp
NM_001308026.1:c.447T>G	NP_001294955.1:p.Cys149Trp
NM_025141.3:c.369T>G	NP_079417.2:p.Cys123Trp
NM_078474.2:c.447T>G	NP_510883.2:p.Cys149Trp
NM_078474.3:c.447T>G MANE Select	NP_510883.2:p.Cys149Trp
NM_001307960.2:c.369T>G	NP_001294889.1:p.Cys123Trp
NM_001308026.2:c.447T>G	NP_001294955.1:p.Cys149Trp
NM_025141.4:c.369T>G	NP_079417.2:p.Cys123Trp