Canonical Allele Identifier: CA346685
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 180536
ClinVar RCV Id: RCV000157514 RCV001008708 RCV001824290
dbSNP Id: rs730880221
MyVariant Identifiers: chr1:g.218607457C>T (hg19) chr1:g.218434115C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218434115C>T , CM000663.2:g.218434115C>T GRCh38
NC_000001.10:g.218607457C>T , CM000663.1:g.218607457C>T GRCh37
NC_000001.9:g.216674080C>T NCBI36
NG_027721.1:g.93782C>T
NG_027721.2:g.93782C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.544C>T MANE Select ENSP00000355897.4:p.Gln182Ter
ENST00000366929.4:c.628C>T ENSP00000355896.4:p.Gln210Ter
ENST00000366930.8:c.544C>T ENSP00000355897.4:p.Gln182Ter
ENST00000488793.1:n.208C>T
NM_001135599.2:c.628C>T NP_001129071.1:p.Gln210Ter
NM_003238.3:c.544C>T NP_003229.1:p.Gln182Ter
NM_001135599.3:c.628C>T NP_001129071.1:p.Gln210Ter
NM_003238.4:c.544C>T NP_003229.1:p.Gln182Ter
NR_138148.1:n.1962C>T
NR_138149.1:n.2046C>T
NM_003238.5:c.544C>T NP_003229.1:p.Gln182Ter
NM_003238.6:c.544C>T MANE Select NP_003229.1:p.Gln182Ter
NM_001135599.4:c.628C>T NP_001129071.1:p.Gln210Ter
NR_138148.2:n.1910C>T
NR_138149.2:n.1994C>T
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