Canonical Allele Identifier: CA432917762

Gene: TGFBR2

Linked Data

• dbSNP Id: rs201484143
• COSMIC: COSM6475917 ; COSM6475918
• MyVariant Identifiers: chr3:g.30715731A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674239A>G , CM000665.2:g.30674239A>G	GRCh38
NC_000003.11:g.30715731A>G , CM000665.1:g.30715731A>G	GRCh37
NC_000003.10:g.30690735A>G	NCBI36
NG_007490.1:g.72738A>G , LRG_779:g.72738A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1389A>G MANE Select	ENSP00000295754.5:p.Ala463=
ENST00000672866.1:n.2985A>G
ENST00000673203.1:n.267A>G
ENST00000295754.9:c.1389A>G	ENSP00000295754.5:p.Ala463=
ENST00000359013.4:c.1464A>G	ENSP00000351905.4:p.Ala488=
NM_001024847.2:c.1464A>G , LRG_779t1:c.1464A>G	NP_001020018.1:p.Ala488=
NM_003242.5:c.1389A>G	NP_003233.4:p.Ala463=
XM_011534043.1:c.1416A>G	XP_011532345.1:p.Ala472=
XM_011534044.1:c.1341A>G	XP_011532346.1:p.Ala447=
XM_011534045.1:c.1284A>G	XP_011532347.1:p.Ala428=
XM_011534043.2:c.1416A>G	XP_011532345.1:p.Ala472=
XM_011534045.3:c.1284A>G	XP_011532347.1:p.Ala428=
XM_017007106.1:c.1284A>G	XP_016862595.1:p.Ala428=
NM_003242.6:c.1389A>G MANE Select	NP_003233.4:p.Ala463=