Allele Registry

Canonical Allele Identifier: CA351821

Gene: TGFB2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.218405192dupA

GRCh37 chr1:g.218578534dupA

Linked Data - NCBI & NCI

ClinVar Allele:

224187

ClinVar RCV:

RCV000208163

ClinVar Variation:

222834

dbSNP:

869025533

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218405192dup , CM000663.2:g.218405192dup	GRCh38
NC_000001.10:g.218578534dup , CM000663.1:g.218578534dup	GRCh37
NC_000001.9:g.216645157dup	NCBI36
NG_027721.1:g.64859dup
NG_027721.2:g.64859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.370dup MANE Select	ENSP00000355897.4:p.Arg124LysfsTer10
ENST00000366929.4:c.454dup	ENSP00000355896.4:p.Arg152LysfsTer10
ENST00000366930.8:c.370dup	ENSP00000355897.4:p.Arg124LysfsTer10
ENST00000488793.1:n.34dup
NM_001135599.2:c.454dup	NP_001129071.1:p.Arg152LysfsTer10
NM_003238.3:c.370dup	NP_003229.1:p.Arg124LysfsTer10
NM_001135599.3:c.454dup	NP_001129071.1:p.Arg152LysfsTer10
NM_003238.4:c.370dup	NP_003229.1:p.Arg124LysfsTer10
NR_138148.1:n.1788dup
NR_138149.1:n.1872dup
NM_003238.5:c.370dup	NP_003229.1:p.Arg124LysfsTer10
NM_003238.6:c.370dup MANE Select	NP_003229.1:p.Arg124LysfsTer10
NM_001135599.4:c.454dup	NP_001129071.1:p.Arg152LysfsTer10
NR_138148.2:n.1736dup
NR_138149.2:n.1820dup

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