Canonical Allele Identifier: CA050772

Gene: TGFBR2

Linked Data

• dbSNP Id: rs759215875
• ExAC: 3:30713666 G / A
• gnomAD v2: 3-30713666-G-A
• gnomAD v4: 3-30672174-G-A
• MyVariant Identifiers: chr3:g.30713666G>A (hg19) ; chr3:g.30672174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672174G>A , CM000665.2:g.30672174G>A	GRCh38
NC_000003.11:g.30713666G>A , CM000665.1:g.30713666G>A	GRCh37
NC_000003.10:g.30688670G>A	NCBI36
NG_007490.1:g.70673G>A , LRG_779:g.70673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.991G>A MANE Select	ENSP00000295754.5:p.Gly331Ser
ENST00000672866.1:n.2587G>A
ENST00000295754.9:c.991G>A	ENSP00000295754.5:p.Gly331Ser
ENST00000359013.4:c.1066G>A	ENSP00000351905.4:p.Gly356Ser
NM_001024847.2:c.1066G>A , LRG_779t1:c.1066G>A	NP_001020018.1:p.Gly356Ser
NM_003242.5:c.991G>A	NP_003233.4:p.Gly331Ser
XM_011534043.1:c.1018G>A	XP_011532345.1:p.Gly340Ser
XM_011534044.1:c.943G>A	XP_011532346.1:p.Gly315Ser
XM_011534045.1:c.886G>A	XP_011532347.1:p.Gly296Ser
XM_011534043.2:c.1018G>A	XP_011532345.1:p.Gly340Ser
XM_011534045.3:c.886G>A	XP_011532347.1:p.Gly296Ser
XM_017007106.1:c.886G>A	XP_016862595.1:p.Gly296Ser
NM_003242.6:c.991G>A MANE Select	NP_003233.4:p.Gly331Ser