Canonical Allele Identifier: CA2499214539

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1075270
• ClinVar RCV Id: RCV001824454 ; RCV002420866
• dbSNP Id: rs2102527595

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346895dup , CM000663.2:g.218346895dup	GRCh38
NC_000001.10:g.218520237dup , CM000663.1:g.218520237dup	GRCh37
NC_000001.9:g.216586860dup	NCBI36
NG_027721.1:g.6562dup
NG_027721.2:g.6562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.194dup MANE Select	ENSP00000355897.4:p.Glu66GlyfsTer?
ENST00000366929.4:c.194dup	ENSP00000355896.4:p.Glu66GlyfsTer?
ENST00000366930.8:c.194dup	ENSP00000355897.4:p.Glu66GlyfsTer?
NM_001135599.2:c.194dup	NP_001129071.1:p.Glu66GlyfsTer?
NM_003238.3:c.194dup	NP_003229.1:p.Glu66GlyfsTer?
NM_001135599.3:c.194dup	NP_001129071.1:p.Glu66GlyfsTer?
NM_003238.4:c.194dup	NP_003229.1:p.Glu66GlyfsTer?
NR_138148.1:n.1612dup
NR_138149.1:n.1612dup
NM_003238.5:c.194dup	NP_003229.1:p.Glu66GlyfsTer?
NM_003238.6:c.194dup MANE Select	NP_003229.1:p.Glu66GlyfsTer?
NM_001135599.4:c.194dup	NP_001129071.1:p.Glu66GlyfsTer?
NR_138148.2:n.1560dup
NR_138149.2:n.1560dup