Canonical Allele Identifier: CA432917709

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125438885
• MyVariant Identifiers: chr3:g.30715632A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674140A>T , CM000665.2:g.30674140A>T	GRCh38
NC_000003.11:g.30715632A>T , CM000665.1:g.30715632A>T	GRCh37
NC_000003.10:g.30690636A>T	NCBI36
NG_007490.1:g.72639A>T , LRG_779:g.72639A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1290A>T MANE Select	ENSP00000295754.5:p.Leu430=
ENST00000672866.1:n.2886A>T
ENST00000673203.1:n.168A>T
ENST00000295754.9:c.1290A>T	ENSP00000295754.5:p.Leu430=
ENST00000359013.4:c.1365A>T	ENSP00000351905.4:p.Leu455=
NM_001024847.2:c.1365A>T , LRG_779t1:c.1365A>T	NP_001020018.1:p.Leu455=
NM_003242.5:c.1290A>T	NP_003233.4:p.Leu430=
XM_011534043.1:c.1317A>T	XP_011532345.1:p.Leu439=
XM_011534044.1:c.1242A>T	XP_011532346.1:p.Leu414=
XM_011534045.1:c.1185A>T	XP_011532347.1:p.Leu395=
XM_011534043.2:c.1317A>T	XP_011532345.1:p.Leu439=
XM_011534045.3:c.1185A>T	XP_011532347.1:p.Leu395=
XM_017007106.1:c.1185A>T	XP_016862595.1:p.Leu395=
NM_003242.6:c.1290A>T MANE Select	NP_003233.4:p.Leu430=