Canonical Allele Identifier: CA321430

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213932
• ClinVar RCV Id: RCV000197000
• dbSNP Id: rs863223851
• MyVariant Identifiers: chr3:g.30715680T>G (hg19) ; chr3:g.30674188T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674188T>G , CM000665.2:g.30674188T>G	GRCh38
NC_000003.11:g.30715680T>G , CM000665.1:g.30715680T>G	GRCh37
NC_000003.10:g.30690684T>G	NCBI36
NG_007490.1:g.72687T>G , LRG_779:g.72687T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1338T>G MANE Select	ENSP00000295754.5:p.Asp446Glu
ENST00000672866.1:n.2934T>G
ENST00000673203.1:n.216T>G
ENST00000295754.9:c.1338T>G	ENSP00000295754.5:p.Asp446Glu
ENST00000359013.4:c.1413T>G	ENSP00000351905.4:p.Asp471Glu
NM_001024847.2:c.1413T>G , LRG_779t1:c.1413T>G	NP_001020018.1:p.Asp471Glu
NM_003242.5:c.1338T>G	NP_003233.4:p.Asp446Glu
XM_011534043.1:c.1365T>G	XP_011532345.1:p.Asp455Glu
XM_011534044.1:c.1290T>G	XP_011532346.1:p.Asp430Glu
XM_011534045.1:c.1233T>G	XP_011532347.1:p.Asp411Glu
XM_011534043.2:c.1365T>G	XP_011532345.1:p.Asp455Glu
XM_011534045.3:c.1233T>G	XP_011532347.1:p.Asp411Glu
XM_017007106.1:c.1233T>G	XP_016862595.1:p.Asp411Glu
NM_003242.6:c.1338T>G MANE Select	NP_003233.4:p.Asp446Glu