Canonical Allele Identifier: CA351807974

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713511T>A (hg19) ; chr3:g.30672019T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672019T>A , CM000665.2:g.30672019T>A	GRCh38
NC_000003.11:g.30713511T>A , CM000665.1:g.30713511T>A	GRCh37
NC_000003.10:g.30688515T>A	NCBI36
NG_007490.1:g.70518T>A , LRG_779:g.70518T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.836T>A MANE Select	ENSP00000295754.5:p.Phe279Tyr
ENST00000672866.1:n.2432T>A
ENST00000295754.9:c.836T>A	ENSP00000295754.5:p.Phe279Tyr
ENST00000359013.4:c.911T>A	ENSP00000351905.4:p.Phe304Tyr
NM_001024847.2:c.911T>A , LRG_779t1:c.911T>A	NP_001020018.1:p.Phe304Tyr
NM_003242.5:c.836T>A	NP_003233.4:p.Phe279Tyr
XM_011534043.1:c.863T>A	XP_011532345.1:p.Phe288Tyr
XM_011534044.1:c.788T>A	XP_011532346.1:p.Phe263Tyr
XM_011534045.1:c.731T>A	XP_011532347.1:p.Phe244Tyr
XM_011534043.2:c.863T>A	XP_011532345.1:p.Phe288Tyr
XM_011534045.3:c.731T>A	XP_011532347.1:p.Phe244Tyr
XM_017007106.1:c.731T>A	XP_016862595.1:p.Phe244Tyr
NM_003242.6:c.836T>A MANE Select	NP_003233.4:p.Phe279Tyr