Canonical Allele Identifier: CA432917727

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125439072
• MyVariant Identifiers: chr3:g.30715668C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674176C>T , CM000665.2:g.30674176C>T	GRCh38
NC_000003.11:g.30715668C>T , CM000665.1:g.30715668C>T	GRCh37
NC_000003.10:g.30690672C>T	NCBI36
NG_007490.1:g.72675C>T , LRG_779:g.72675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1326C>T MANE Select	ENSP00000295754.5:p.Phe442=
ENST00000672866.1:n.2922C>T
ENST00000673203.1:n.204C>T
ENST00000295754.9:c.1326C>T	ENSP00000295754.5:p.Phe442=
ENST00000359013.4:c.1401C>T	ENSP00000351905.4:p.Phe467=
NM_001024847.2:c.1401C>T , LRG_779t1:c.1401C>T	NP_001020018.1:p.Phe467=
NM_003242.5:c.1326C>T	NP_003233.4:p.Phe442=
XM_011534043.1:c.1353C>T	XP_011532345.1:p.Phe451=
XM_011534044.1:c.1278C>T	XP_011532346.1:p.Phe426=
XM_011534045.1:c.1221C>T	XP_011532347.1:p.Phe407=
XM_011534043.2:c.1353C>T	XP_011532345.1:p.Phe451=
XM_011534045.3:c.1221C>T	XP_011532347.1:p.Phe407=
XM_017007106.1:c.1221C>T	XP_016862595.1:p.Phe407=
NM_003242.6:c.1326C>T MANE Select	NP_003233.4:p.Phe442=