Canonical Allele Identifier: CA432917975

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30732941T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691449T>G , CM000665.2:g.30691449T>G	GRCh38
NC_000003.11:g.30732941T>G , CM000665.1:g.30732941T>G	GRCh37
NC_000003.10:g.30707945T>G	NCBI36
NG_007490.1:g.89948T>G , LRG_779:g.89948T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1554T>G MANE Select	ENSP00000295754.5:p.Thr518=
ENST00000672050.1:n.438T>G
ENST00000672866.1:n.3150T>G
ENST00000673203.1:n.432T>G
ENST00000295754.9:c.1554T>G	ENSP00000295754.5:p.Thr518=
ENST00000359013.4:c.1629T>G	ENSP00000351905.4:p.Thr543=
NM_001024847.2:c.1629T>G , LRG_779t1:c.1629T>G	NP_001020018.1:p.Thr543=
NM_003242.5:c.1554T>G	NP_003233.4:p.Thr518=
XM_011534043.1:c.1581T>G	XP_011532345.1:p.Thr527=
XM_011534044.1:c.1506T>G	XP_011532346.1:p.Thr502=
XM_011534045.1:c.1449T>G	XP_011532347.1:p.Thr483=
XM_011534043.2:c.1581T>G	XP_011532345.1:p.Thr527=
XM_011534045.3:c.1449T>G	XP_011532347.1:p.Thr483=
XM_017007106.1:c.1449T>G	XP_016862595.1:p.Thr483=
NM_003242.6:c.1554T>G MANE Select	NP_003233.4:p.Thr518=