Canonical Allele Identifier: CA351808885

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125438743
• MyVariant Identifiers: chr3:g.30715604C>T (hg19) ; chr3:g.30674112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674112C>T , CM000665.2:g.30674112C>T	GRCh38
NC_000003.11:g.30715604C>T , CM000665.1:g.30715604C>T	GRCh37
NC_000003.10:g.30690608C>T	NCBI36
NG_007490.1:g.72611C>T , LRG_779:g.72611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1262C>T MANE Select	ENSP00000295754.5:p.Thr421Ile
ENST00000672866.1:n.2858C>T
ENST00000673203.1:n.140C>T
ENST00000295754.9:c.1262C>T	ENSP00000295754.5:p.Thr421Ile
ENST00000359013.4:c.1337C>T	ENSP00000351905.4:p.Thr446Ile
NM_001024847.2:c.1337C>T , LRG_779t1:c.1337C>T	NP_001020018.1:p.Thr446Ile
NM_003242.5:c.1262C>T	NP_003233.4:p.Thr421Ile
XM_011534043.1:c.1289C>T	XP_011532345.1:p.Thr430Ile
XM_011534044.1:c.1214C>T	XP_011532346.1:p.Thr405Ile
XM_011534045.1:c.1157C>T	XP_011532347.1:p.Thr386Ile
XM_011534043.2:c.1289C>T	XP_011532345.1:p.Thr430Ile
XM_011534045.3:c.1157C>T	XP_011532347.1:p.Thr386Ile
XM_017007106.1:c.1157C>T	XP_016862595.1:p.Thr386Ile
NM_003242.6:c.1262C>T MANE Select	NP_003233.4:p.Thr421Ile