Canonical Allele Identifier: CA351809521

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125455129
• MyVariant Identifiers: chr3:g.30732931A>T (hg19) ; chr3:g.30691439A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691439A>T , CM000665.2:g.30691439A>T	GRCh38
NC_000003.11:g.30732931A>T , CM000665.1:g.30732931A>T	GRCh37
NC_000003.10:g.30707935A>T	NCBI36
NG_007490.1:g.89938A>T , LRG_779:g.89938A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1544A>T MANE Select	ENSP00000295754.5:p.Glu515Val
ENST00000672050.1:n.428A>T
ENST00000672866.1:n.3140A>T
ENST00000673203.1:n.422A>T
ENST00000295754.9:c.1544A>T	ENSP00000295754.5:p.Glu515Val
ENST00000359013.4:c.1619A>T	ENSP00000351905.4:p.Glu540Val
NM_001024847.2:c.1619A>T , LRG_779t1:c.1619A>T	NP_001020018.1:p.Glu540Val
NM_003242.5:c.1544A>T	NP_003233.4:p.Glu515Val
XM_011534043.1:c.1571A>T	XP_011532345.1:p.Glu524Val
XM_011534044.1:c.1496A>T	XP_011532346.1:p.Glu499Val
XM_011534045.1:c.1439A>T	XP_011532347.1:p.Glu480Val
XM_011534043.2:c.1571A>T	XP_011532345.1:p.Glu524Val
XM_011534045.3:c.1439A>T	XP_011532347.1:p.Glu480Val
XM_017007106.1:c.1439A>T	XP_016862595.1:p.Glu480Val
NM_003242.6:c.1544A>T MANE Select	NP_003233.4:p.Glu515Val