Canonical Allele Identifier: CA16617063
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423134
ClinVar RCV Id: RCV000482233
dbSNP Id: rs1064796256
MyVariant Identifiers: chr1:g.218607489_218607490del (hg19) chr1:g.218434147_218434148del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218434147_218434148del , CM000663.2:g.218434147_218434148del GRCh38
NC_000001.10:g.218607489_218607490del , CM000663.1:g.218607489_218607490del GRCh37
NC_000001.9:g.216674112_216674113del NCBI36
NG_027721.1:g.93814_93815del
NG_027721.2:g.93814_93815del

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.576_577del MANE Select ENSP00000355897.4:p.Arg193SerfsTer12
ENST00000366929.4:c.660_661del ENSP00000355896.4:p.Arg221SerfsTer12
ENST00000366930.8:c.576_577del ENSP00000355897.4:p.Arg193SerfsTer12
ENST00000479322.1:n.22_23del
ENST00000488793.1:n.240_241del
NM_001135599.2:c.660_661del NP_001129071.1:p.Arg221SerfsTer12
NM_003238.3:c.576_577del NP_003229.1:p.Arg193SerfsTer12
NM_001135599.3:c.660_661del NP_001129071.1:p.Arg221SerfsTer12
NM_003238.4:c.576_577del NP_003229.1:p.Arg193SerfsTer12
NR_138148.1:n.1994_1995del
NR_138149.1:n.2078_2079del
NM_003238.5:c.576_577del NP_003229.1:p.Arg193SerfsTer12
NM_003238.6:c.576_577del MANE Select NP_003229.1:p.Arg193SerfsTer12
NM_001135599.4:c.660_661del NP_001129071.1:p.Arg221SerfsTer12
NR_138148.2:n.1942_1943del
NR_138149.2:n.2026_2027del
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