Canonical Allele Identifier: CA432917742

Gene: TGFBR2

Linked Data

• dbSNP Id: rs997766869
• COSMIC: COSM4634972 ; COSM4634973
• MyVariant Identifiers: chr3:g.30715698G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674206G>A , CM000665.2:g.30674206G>A	GRCh38
NC_000003.11:g.30715698G>A , CM000665.1:g.30715698G>A	GRCh37
NC_000003.10:g.30690702G>A	NCBI36
NG_007490.1:g.72705G>A , LRG_779:g.72705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1356G>A MANE Select	ENSP00000295754.5:p.Leu452=
ENST00000672866.1:n.2952G>A
ENST00000673203.1:n.234G>A
ENST00000295754.9:c.1356G>A	ENSP00000295754.5:p.Leu452=
ENST00000359013.4:c.1431G>A	ENSP00000351905.4:p.Leu477=
NM_001024847.2:c.1431G>A , LRG_779t1:c.1431G>A	NP_001020018.1:p.Leu477=
NM_003242.5:c.1356G>A	NP_003233.4:p.Leu452=
XM_011534043.1:c.1383G>A	XP_011532345.1:p.Leu461=
XM_011534044.1:c.1308G>A	XP_011532346.1:p.Leu436=
XM_011534045.1:c.1251G>A	XP_011532347.1:p.Leu417=
XM_011534043.2:c.1383G>A	XP_011532345.1:p.Leu461=
XM_011534045.3:c.1251G>A	XP_011532347.1:p.Leu417=
XM_017007106.1:c.1251G>A	XP_016862595.1:p.Leu417=
NM_003242.6:c.1356G>A MANE Select	NP_003233.4:p.Leu452=