Canonical Allele Identifier: CA322864
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213852
ClinVar RCV Id: RCV000198360
dbSNP Id: rs863223797
MyVariant Identifiers: chr1:g.218578520del (hg19) chr1:g.218405178del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218405178del , CM000663.2:g.218405178del GRCh38
NC_000001.10:g.218578520del , CM000663.1:g.218578520del GRCh37
NC_000001.9:g.216645143del NCBI36
NG_027721.1:g.64845del
NG_027721.2:g.64845del

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.356del MANE Select ENSP00000355897.4:p.Pro119ArgfsTer27
ENST00000366929.4:c.440del ENSP00000355896.4:p.Pro147ArgfsTer27
ENST00000366930.8:c.356del ENSP00000355897.4:p.Pro119ArgfsTer27
ENST00000488793.1:n.20del
NM_001135599.2:c.440del NP_001129071.1:p.Pro147ArgfsTer27
NM_003238.3:c.356del NP_003229.1:p.Pro119ArgfsTer27
NM_001135599.3:c.440del NP_001129071.1:p.Pro147ArgfsTer27
NM_003238.4:c.356del NP_003229.1:p.Pro119ArgfsTer27
NR_138148.1:n.1774del
NR_138149.1:n.1858del
NM_003238.5:c.356del NP_003229.1:p.Pro119ArgfsTer27
NM_003238.6:c.356del MANE Select NP_003229.1:p.Pro119ArgfsTer27
NM_001135599.4:c.440del NP_001129071.1:p.Pro147ArgfsTer27
NR_138148.2:n.1722del
NR_138149.2:n.1806del
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