Canonical Allele Identifier: CA351807910

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1718310
• ClinVar RCV Id: RCV002299725
• dbSNP Id: rs1699347917
• gnomAD v3: 3-30671990-G-T
• gnomAD v4: 3-30671990-G-T
• MyVariant Identifiers: chr3:g.30713482G>T (hg19) ; chr3:g.30671990G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671990G>T , CM000665.2:g.30671990G>T	GRCh38
NC_000003.11:g.30713482G>T , CM000665.1:g.30713482G>T	GRCh37
NC_000003.10:g.30688486G>T	NCBI36
NG_007490.1:g.70489G>T , LRG_779:g.70489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.807G>T MANE Select	ENSP00000295754.5:p.Glu269Asp
ENST00000672866.1:n.2403G>T
ENST00000295754.9:c.807G>T	ENSP00000295754.5:p.Glu269Asp
ENST00000359013.4:c.882G>T	ENSP00000351905.4:p.Glu294Asp
NM_001024847.2:c.882G>T , LRG_779t1:c.882G>T	NP_001020018.1:p.Glu294Asp
NM_003242.5:c.807G>T	NP_003233.4:p.Glu269Asp
XM_011534043.1:c.834G>T	XP_011532345.1:p.Glu278Asp
XM_011534044.1:c.759G>T	XP_011532346.1:p.Glu253Asp
XM_011534045.1:c.702G>T	XP_011532347.1:p.Glu234Asp
XM_011534043.2:c.834G>T	XP_011532345.1:p.Glu278Asp
XM_011534045.3:c.702G>T	XP_011532347.1:p.Glu234Asp
XM_017007106.1:c.702G>T	XP_016862595.1:p.Glu234Asp
NM_003242.6:c.807G>T MANE Select	NP_003233.4:p.Glu269Asp