Canonical Allele Identifier: CA020575

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 12508
• ClinVar RCV Id: RCV000013332
• dbSNP Id: rs104893812
• MyVariant Identifiers: chr3:g.30713681T>A (hg19) ; chr3:g.30672189T>A (hg38)
• PubMed: PMID:15731757

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672189T>A , CM000665.2:g.30672189T>A	GRCh38
NC_000003.11:g.30713681T>A , CM000665.1:g.30713681T>A	GRCh37
NC_000003.10:g.30688685T>A	NCBI36
NG_007490.1:g.70688T>A , LRG_779:g.70688T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1006T>A MANE Select	ENSP00000295754.5:p.Tyr336Asn
ENST00000672866.1:n.2602T>A
ENST00000295754.9:c.1006T>A	ENSP00000295754.5:p.Tyr336Asn
ENST00000359013.4:c.1081T>A	ENSP00000351905.4:p.Tyr361Asn
NM_001024847.2:c.1081T>A , LRG_779t1:c.1081T>A	NP_001020018.1:p.Tyr361Asn
NM_003242.5:c.1006T>A	NP_003233.4:p.Tyr336Asn
XM_011534043.1:c.1033T>A	XP_011532345.1:p.Tyr345Asn
XM_011534044.1:c.958T>A	XP_011532346.1:p.Tyr320Asn
XM_011534045.1:c.901T>A	XP_011532347.1:p.Tyr301Asn
XM_011534043.2:c.1033T>A	XP_011532345.1:p.Tyr345Asn
XM_011534045.3:c.901T>A	XP_011532347.1:p.Tyr301Asn
XM_017007106.1:c.901T>A	XP_016862595.1:p.Tyr301Asn
NM_003242.6:c.1006T>A MANE Select	NP_003233.4:p.Tyr336Asn