Canonical Allele Identifier: CA351807906

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1303459
• ClinVar RCV Id: RCV001758014 ; RCV001882832
• dbSNP Id: rs1699347759
• gnomAD v4: 3-30671988-G-T
• MyVariant Identifiers: chr3:g.30713480G>T (hg19) ; chr3:g.30671988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671988G>T , CM000665.2:g.30671988G>T	GRCh38
NC_000003.11:g.30713480G>T , CM000665.1:g.30713480G>T	GRCh37
NC_000003.10:g.30688484G>T	NCBI36
NG_007490.1:g.70487G>T , LRG_779:g.70487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.805G>T MANE Select	ENSP00000295754.5:p.Glu269Ter
ENST00000672866.1:n.2401G>T
ENST00000295754.9:c.805G>T	ENSP00000295754.5:p.Glu269Ter
ENST00000359013.4:c.880G>T	ENSP00000351905.4:p.Glu294Ter
NM_001024847.2:c.880G>T , LRG_779t1:c.880G>T	NP_001020018.1:p.Glu294Ter
NM_003242.5:c.805G>T	NP_003233.4:p.Glu269Ter
XM_011534043.1:c.832G>T	XP_011532345.1:p.Glu278Ter
XM_011534044.1:c.757G>T	XP_011532346.1:p.Glu253Ter
XM_011534045.1:c.700G>T	XP_011532347.1:p.Glu234Ter
XM_011534043.2:c.832G>T	XP_011532345.1:p.Glu278Ter
XM_011534045.3:c.700G>T	XP_011532347.1:p.Glu234Ter
XM_017007106.1:c.700G>T	XP_016862595.1:p.Glu234Ter
NM_003242.6:c.805G>T MANE Select	NP_003233.4:p.Glu269Ter