Canonical Allele Identifier: CA351959
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 222832
ClinVar RCV Id: RCV000208340 RCV001824300 RCV002321824 RCV003221862
dbSNP Id: rs869025531
gnomAD v4: 1-218405213-C-T
COSMIC: COSM173859 COSM3418767
MyVariant Identifiers: chr1:g.218578555C>T (hg19) chr1:g.218405213C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218405213C>T , CM000663.2:g.218405213C>T GRCh38
NC_000001.10:g.218578555C>T , CM000663.1:g.218578555C>T GRCh37
NC_000001.9:g.216645178C>T NCBI36
NG_027721.1:g.64880C>T
NG_027721.2:g.64880C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.391C>T MANE Select ENSP00000355897.4:p.Arg131Ter
ENST00000366929.4:c.475C>T ENSP00000355896.4:p.Arg159Ter
ENST00000366930.8:c.391C>T ENSP00000355897.4:p.Arg131Ter
ENST00000488793.1:n.55C>T
NM_001135599.2:c.475C>T NP_001129071.1:p.Arg159Ter
NM_003238.3:c.391C>T NP_003229.1:p.Arg131Ter
NM_001135599.3:c.475C>T NP_001129071.1:p.Arg159Ter
NM_003238.4:c.391C>T NP_003229.1:p.Arg131Ter
NR_138148.1:n.1809C>T
NR_138149.1:n.1893C>T
NM_003238.5:c.391C>T NP_003229.1:p.Arg131Ter
NM_003238.6:c.391C>T MANE Select NP_003229.1:p.Arg131Ter
NM_001135599.4:c.475C>T NP_001129071.1:p.Arg159Ter
NR_138148.2:n.1757C>T
NR_138149.2:n.1841C>T
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