Canonical Allele Identifier: CA354091

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 224872
• ClinVar RCV Id: RCV000210476 ; RCV001824688 ; RCV002372209 ; RCV000255040 ; RCV004017492
• dbSNP Id: rs869312903
• MyVariant Identifiers: chr1:g.218609461C>T (hg19) ; chr1:g.218436119C>T (hg38)
• PubMed: PMID:22772368

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218436119C>T , CM000663.2:g.218436119C>T	GRCh38
NC_000001.10:g.218609461C>T , CM000663.1:g.218609461C>T	GRCh37
NC_000001.9:g.216676084C>T	NCBI36
NG_027721.1:g.95786C>T
NG_027721.2:g.95786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.904C>T MANE Select	ENSP00000355897.4:p.Arg302Cys
ENST00000366929.4:c.988C>T	ENSP00000355896.4:p.Arg330Cys
ENST00000366930.8:c.904C>T	ENSP00000355897.4:p.Arg302Cys
ENST00000479322.1:n.388C>T
NM_001135599.2:c.988C>T	NP_001129071.1:p.Arg330Cys
NM_003238.3:c.904C>T	NP_003229.1:p.Arg302Cys
NM_001135599.3:c.988C>T	NP_001129071.1:p.Arg330Cys
NM_003238.4:c.904C>T	NP_003229.1:p.Arg302Cys
NR_138148.1:n.2207C>T
NR_138149.1:n.2291C>T
NM_003238.5:c.904C>T	NP_003229.1:p.Arg302Cys
NM_003238.6:c.904C>T MANE Select	NP_003229.1:p.Arg302Cys
NM_001135599.4:c.988C>T	NP_001129071.1:p.Arg330Cys
NR_138148.2:n.2155C>T
NR_138149.2:n.2239C>T