Canonical Allele Identifier: CA324927

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213928
• ClinVar RCV Id: RCV000200367
• dbSNP Id: rs863223848
• MyVariant Identifiers: chr3:g.30715598T>A (hg19) ; chr3:g.30674106T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674106T>A , CM000665.2:g.30674106T>A	GRCh38
NC_000003.11:g.30715598T>A , CM000665.1:g.30715598T>A	GRCh37
NC_000003.10:g.30690602T>A	NCBI36
NG_007490.1:g.72605T>A , LRG_779:g.72605T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1256T>A MANE Select	ENSP00000295754.5:p.Val419Glu
ENST00000672866.1:n.2852T>A
ENST00000673203.1:n.134T>A
ENST00000295754.9:c.1256T>A	ENSP00000295754.5:p.Val419Glu
ENST00000359013.4:c.1331T>A	ENSP00000351905.4:p.Val444Glu
NM_001024847.2:c.1331T>A , LRG_779t1:c.1331T>A	NP_001020018.1:p.Val444Glu
NM_003242.5:c.1256T>A	NP_003233.4:p.Val419Glu
XM_011534043.1:c.1283T>A	XP_011532345.1:p.Val428Glu
XM_011534044.1:c.1208T>A	XP_011532346.1:p.Val403Glu
XM_011534045.1:c.1151T>A	XP_011532347.1:p.Val384Glu
XM_011534043.2:c.1283T>A	XP_011532345.1:p.Val428Glu
XM_011534045.3:c.1151T>A	XP_011532347.1:p.Val384Glu
XM_017007106.1:c.1151T>A	XP_016862595.1:p.Val384Glu
NM_003242.6:c.1256T>A MANE Select	NP_003233.4:p.Val419Glu