Canonical Allele Identifier: CA020721
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12503
ClinVar RCV Id: RCV000013326 RCV000688883
dbSNP Id: rs121918714
MyVariant Identifiers: chr3:g.30732963G>C (hg19) chr3:g.30691471G>C (hg38)
PubMed: PMID:10789724
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691471G>C , CM000665.2:g.30691471G>C GRCh38
NC_000003.11:g.30732963G>C , CM000665.1:g.30732963G>C GRCh37
NC_000003.10:g.30707967G>C NCBI36
NG_007490.1:g.89970G>C , LRG_779:g.89970G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1576G>C MANE Select ENSP00000295754.5:p.Glu526Gln
ENST00000672050.1:n.460G>C
ENST00000672866.1:n.3172G>C
ENST00000673203.1:n.454G>C
ENST00000295754.9:c.1576G>C ENSP00000295754.5:p.Glu526Gln
ENST00000359013.4:c.1651G>C ENSP00000351905.4:p.Glu551Gln
NM_001024847.2:c.1651G>C , LRG_779t1:c.1651G>C NP_001020018.1:p.Glu551Gln
NM_003242.5:c.1576G>C NP_003233.4:p.Glu526Gln
XM_011534043.1:c.1603G>C XP_011532345.1:p.Glu535Gln
XM_011534044.1:c.1528G>C XP_011532346.1:p.Glu510Gln
XM_011534045.1:c.1471G>C XP_011532347.1:p.Glu491Gln
XM_011534043.2:c.1603G>C XP_011532345.1:p.Glu535Gln
XM_011534045.3:c.1471G>C XP_011532347.1:p.Glu491Gln
XM_017007106.1:c.1471G>C XP_016862595.1:p.Glu491Gln
NM_003242.6:c.1576G>C MANE Select NP_003233.4:p.Glu526Gln
Search 100 bp 5'
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