Canonical Allele Identifier: CA020791
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12505
ClinVar RCV Id: RCV000013329
dbSNP Id: rs28934568
MyVariant Identifiers: chr3:g.30713598T>C (hg19) chr3:g.30672106T>C (hg38)
PubMed: PMID:15235604 PMID:20358619
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672106T>C , CM000665.2:g.30672106T>C GRCh38
NC_000003.11:g.30713598T>C , CM000665.1:g.30713598T>C GRCh37
NC_000003.10:g.30688602T>C NCBI36
NG_007490.1:g.70605T>C , LRG_779:g.70605T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.923T>C MANE Select ENSP00000295754.5:p.Leu308Pro
ENST00000672866.1:n.2519T>C
ENST00000295754.9:c.923T>C ENSP00000295754.5:p.Leu308Pro
ENST00000359013.4:c.998T>C ENSP00000351905.4:p.Leu333Pro
NM_001024847.2:c.998T>C , LRG_779t1:c.998T>C NP_001020018.1:p.Leu333Pro
NM_003242.5:c.923T>C NP_003233.4:p.Leu308Pro
XM_011534043.1:c.950T>C XP_011532345.1:p.Leu317Pro
XM_011534044.1:c.875T>C XP_011532346.1:p.Leu292Pro
XM_011534045.1:c.818T>C XP_011532347.1:p.Leu273Pro
XM_011534043.2:c.950T>C XP_011532345.1:p.Leu317Pro
XM_011534045.3:c.818T>C XP_011532347.1:p.Leu273Pro
XM_017007106.1:c.818T>C XP_016862595.1:p.Leu273Pro
NM_003242.6:c.923T>C MANE Select NP_003233.4:p.Leu308Pro
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