Canonical Allele Identifier: CA319954
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213848
ClinVar RCV Id: RCV000195595
dbSNP Id: rs863223795
MyVariant Identifiers: chr1:g.218607680_218607681insT (hg19) chr1:g.218434338_218434339insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218434338_218434339insT , CM000663.2:g.218434338_218434339insT GRCh38
NC_000001.10:g.218607680_218607681insT , CM000663.1:g.218607680_218607681insT GRCh37
NC_000001.9:g.216674303_216674304insT NCBI36
NG_027721.1:g.94005_94006insT
NG_027721.2:g.94005_94006insT

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.644_645insT MANE Select ENSP00000355897.4:p.Arg216GlnfsTer6
ENST00000366929.4:c.728_729insT ENSP00000355896.4:p.Arg244GlnfsTer6
ENST00000366930.8:c.644_645insT ENSP00000355897.4:p.Arg216GlnfsTer6
ENST00000479322.1:n.128_129insT
NM_001135599.2:c.728_729insT NP_001129071.1:p.Arg244GlnfsTer6
NM_003238.3:c.644_645insT NP_003229.1:p.Arg216GlnfsTer6
NM_001135599.3:c.728_729insT NP_001129071.1:p.Arg244GlnfsTer6
NM_003238.4:c.644_645insT NP_003229.1:p.Arg216GlnfsTer6
NR_138148.1:n.2062_2063insT
NR_138149.1:n.2146_2147insT
NM_003238.5:c.644_645insT NP_003229.1:p.Arg216GlnfsTer6
NM_003238.6:c.644_645insT MANE Select NP_003229.1:p.Arg216GlnfsTer6
NM_001135599.4:c.728_729insT NP_001129071.1:p.Arg244GlnfsTer6
NR_138148.2:n.2010_2011insT
NR_138149.2:n.2094_2095insT
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