Canonical Allele Identifier: CA351809617

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1775863
• ClinVar RCV Id: RCV002398380
• dbSNP Id: rs1699708963
• COSMIC: COSM4820429 ; COSM4820430
• MyVariant Identifiers: chr3:g.30732976C>T (hg19) ; chr3:g.30691484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691484C>T , CM000665.2:g.30691484C>T	GRCh38
NC_000003.11:g.30732976C>T , CM000665.1:g.30732976C>T	GRCh37
NC_000003.10:g.30707980C>T	NCBI36
NG_007490.1:g.89983C>T , LRG_779:g.89983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1589C>T MANE Select	ENSP00000295754.5:p.Thr530Ile
ENST00000672050.1:n.473C>T
ENST00000672866.1:n.3185C>T
ENST00000673203.1:n.467C>T
ENST00000295754.9:c.1589C>T	ENSP00000295754.5:p.Thr530Ile
ENST00000359013.4:c.1664C>T	ENSP00000351905.4:p.Thr555Ile
NM_001024847.2:c.1664C>T , LRG_779t1:c.1664C>T	NP_001020018.1:p.Thr555Ile
NM_003242.5:c.1589C>T	NP_003233.4:p.Thr530Ile
XM_011534043.1:c.1616C>T	XP_011532345.1:p.Thr539Ile
XM_011534044.1:c.1541C>T	XP_011532346.1:p.Thr514Ile
XM_011534045.1:c.1484C>T	XP_011532347.1:p.Thr495Ile
XM_011534043.2:c.1616C>T	XP_011532345.1:p.Thr539Ile
XM_011534045.3:c.1484C>T	XP_011532347.1:p.Thr495Ile
XM_017007106.1:c.1484C>T	XP_016862595.1:p.Thr495Ile
NM_003242.6:c.1589C>T MANE Select	NP_003233.4:p.Thr530Ile