Canonical Allele Identifier: CA020726

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691477C>T , CM000665.2:g.30691477C>T	GRCh38
NC_000003.11:g.30732969C>T , CM000665.1:g.30732969C>T	GRCh37
NC_000003.10:g.30707973C>T	NCBI36
NG_007490.1:g.89976C>T , LRG_779:g.89976C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1582C>T MANE Select	NP_003233.4:p.Arg528Cys
ENST00000295754.10:c.1582C>T MANE Select	ENSP00000295754.5:p.Arg528Cys
NM_001024847.2:c.1657C>T , LRG_779t1:c.1657C>T	NP_001020018.1:p.Arg553Cys
NM_003242.5:c.1582C>T	NP_003233.4:p.Arg528Cys
ENST00000295754.9:c.1582C>T	ENSP00000295754.5:p.Arg528Cys
ENST00000359013.4:c.1657C>T	ENSP00000351905.4:p.Arg553Cys
ENST00000672050.1:n.466C>T
ENST00000672866.1:n.3178C>T
ENST00000673203.1:n.460C>T
XM_011534043.1:c.1609C>T	XP_011532345.1:p.Arg537Cys
XM_011534043.2:c.1609C>T	XP_011532345.1:p.Arg537Cys
XM_011534044.1:c.1534C>T	XP_011532346.1:p.Arg512Cys
XM_011534045.1:c.1477C>T	XP_011532347.1:p.Arg493Cys
XM_011534045.3:c.1477C>T	XP_011532347.1:p.Arg493Cys
XM_017007106.1:c.1477C>T	XP_016862595.1:p.Arg493Cys