Canonical Allele Identifier: CA2200628496

Gene: TM2D3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.447T= MANE Select	ENSP00000330433.3:p.Cys149=
ENST00000333202.7:c.447T=	ENSP00000330433.3:p.Cys149=
ENST00000347970.7:c.369T=	ENSP00000327584.3:p.Cys123=
ENST00000428002.6:c.369T=	ENSP00000402179.2:p.Cys123=
ENST00000558129.5:c.278T=
ENST00000558677.5:c.748T=
ENST00000559024.5:n.468T=
ENST00000559107.5:c.447T=	ENSP00000454131.1:p.Cys149=
ENST00000560013.5:c.*815T=	ENSP00000453503.1:n.*815T=
ENST00000560910.5:n.389T=
ENST00000561373.1:c.252T=	ENSP00000452823.1:p.Cys84=
NM_001307960.1:c.369T=	NP_001294889.1:p.Cys123=
NM_001308026.1:c.447T=	NP_001294955.1:p.Cys149=
NM_025141.3:c.369T=	NP_079417.2:p.Cys123=
NM_078474.2:c.447T=	NP_510883.2:p.Cys149=
NM_078474.3:c.447T= MANE Select	NP_510883.2:p.Cys149=
NM_001307960.2:c.369T=	NP_001294889.1:p.Cys123=
NM_001308026.2:c.447T=	NP_001294955.1:p.Cys149=
NM_025141.4:c.369T=	NP_079417.2:p.Cys123=