Canonical Allele Identifier: CA323609

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213934
• ClinVar RCV Id: RCV000199072 ; RCV000244033 ; RCV000490801 ; RCV000680613 ; RCV001449740
• dbSNP Id: rs863223852
• COSMIC: COSM21276 ; COSM2983538
• MyVariant Identifiers: chr3:g.30729968C>T (hg19) ; chr3:g.30688476C>T (hg38)
• PubMed: PMID:16799921 ; PMID:22113417 ; PMID:28225382

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688476C>T , CM000665.2:g.30688476C>T	GRCh38
NC_000003.11:g.30729968C>T , CM000665.1:g.30729968C>T	GRCh37
NC_000003.10:g.30704972C>T	NCBI36
NG_007490.1:g.86975C>T , LRG_779:g.86975C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1489C>T MANE Select	ENSP00000295754.5:p.Arg497Ter
ENST00000672050.1:n.373C>T
ENST00000672866.1:n.3085C>T
ENST00000673203.1:n.367C>T
ENST00000295754.9:c.1489C>T	ENSP00000295754.5:p.Arg497Ter
ENST00000359013.4:c.1564C>T	ENSP00000351905.4:p.Arg522Ter
NM_001024847.2:c.1564C>T , LRG_779t1:c.1564C>T	NP_001020018.1:p.Arg522Ter
NM_003242.5:c.1489C>T	NP_003233.4:p.Arg497Ter
XM_011534043.1:c.1516C>T	XP_011532345.1:p.Arg506Ter
XM_011534044.1:c.1441C>T	XP_011532346.1:p.Arg481Ter
XM_011534045.1:c.1384C>T	XP_011532347.1:p.Arg462Ter
XM_011534043.2:c.1516C>T	XP_011532345.1:p.Arg506Ter
XM_011534045.3:c.1384C>T	XP_011532347.1:p.Arg462Ter
XM_017007106.1:c.1384C>T	XP_016862595.1:p.Arg462Ter
NM_003242.6:c.1489C>T MANE Select	NP_003233.4:p.Arg497Ter