Canonical Allele Identifier: CA10609114
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 295484
ClinVar RCV Id: RCV000405291 RCV001642908 RCV002502171
dbSNP Id: rs200186989
gnomAD v2: 1-218519991-CT-C
gnomAD v3: 1-218346649-CT-C
gnomAD v4: 1-218346649-CT-C
MyVariant Identifiers: chr1:g.218519999del (hg19) chr1:g.218519992del (hg19) chr1:g.218346657del (hg38) chr1:g.218346650del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346657del , CM000663.2:g.218346657del GRCh38
NC_000001.10:g.218519999del , CM000663.1:g.218519999del GRCh37
NC_000001.9:g.216586622del NCBI36
NG_027721.1:g.6324del
NG_027721.2:g.6324del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.-45del MANE Select ENSP00000355897.4:n.-45del
ENST00000366929.4:c.-45del ENSP00000355896.4:n.-45del
ENST00000366930.8:c.-45del ENSP00000355897.4:n.-45del
NM_001135599.2:c.-45del NP_001129071.1:n.-45del
NM_003238.3:c.-45del NP_003229.1:n.-45del
NM_001135599.3:c.-45del NP_001129071.1:n.-45del
NM_003238.4:c.-45del NP_003229.1:n.-45del
NR_138148.1:n.1374del
NR_138149.1:n.1374del
NM_003238.5:c.-45del NP_003229.1:n.-45del
NM_003238.6:c.-45del MANE Select NP_003229.1:n.-45del
NM_001135599.4:c.-45del NP_001129071.1:n.-45del
NR_138148.2:n.1322del
NR_138149.2:n.1322del
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