Canonical Allele Identifier: CA351808922

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125438856
• MyVariant Identifiers: chr3:g.30715625A>G (hg19) ; chr3:g.30674133A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674133A>G , CM000665.2:g.30674133A>G	GRCh38
NC_000003.11:g.30715625A>G , CM000665.1:g.30715625A>G	GRCh37
NC_000003.10:g.30690629A>G	NCBI36
NG_007490.1:g.72632A>G , LRG_779:g.72632A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1283A>G MANE Select	ENSP00000295754.5:p.Glu428Gly
ENST00000672866.1:n.2879A>G
ENST00000673203.1:n.161A>G
ENST00000295754.9:c.1283A>G	ENSP00000295754.5:p.Glu428Gly
ENST00000359013.4:c.1358A>G	ENSP00000351905.4:p.Glu453Gly
NM_001024847.2:c.1358A>G , LRG_779t1:c.1358A>G	NP_001020018.1:p.Glu453Gly
NM_003242.5:c.1283A>G	NP_003233.4:p.Glu428Gly
XM_011534043.1:c.1310A>G	XP_011532345.1:p.Glu437Gly
XM_011534044.1:c.1235A>G	XP_011532346.1:p.Glu412Gly
XM_011534045.1:c.1178A>G	XP_011532347.1:p.Glu393Gly
XM_011534043.2:c.1310A>G	XP_011532345.1:p.Glu437Gly
XM_011534045.3:c.1178A>G	XP_011532347.1:p.Glu393Gly
XM_017007106.1:c.1178A>G	XP_016862595.1:p.Glu393Gly
NM_003242.6:c.1283A>G MANE Select	NP_003233.4:p.Glu428Gly