Canonical Allele Identifier: CA020769

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 44658
• ClinVar RCV Id: RCV000037737 ; RCV000250660 ; RCV000322117 ; RCV000374376 ; RCV000617139 ; RCV001811264 ; RCV003148642
• dbSNP Id: rs11466512
• ExAC: 3:30713126 T / A
• gnomAD v2: 3-30713126-T-A
• gnomAD v3: 3-30671634-T-A
• gnomAD v4: 3-30671634-T-A
• MyVariant Identifiers: chr3:g.30713126T>A (hg19) ; chr3:g.30671634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671634T>A , CM000665.2:g.30671634T>A	GRCh38
NC_000003.11:g.30713126T>A , CM000665.1:g.30713126T>A	GRCh37
NC_000003.10:g.30688130T>A	NCBI36
NG_007490.1:g.70133T>A , LRG_779:g.70133T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.455-4T>A MANE Select	ENSP00000295754.5:n.455-4T>A
ENST00000672866.1:n.2051-4T>A
ENST00000295754.9:c.455-4T>A	ENSP00000295754.5:n.455-4T>A
ENST00000359013.4:c.530-4T>A	ENSP00000351905.4:n.530-4T>A
NM_001024847.2:c.530-4T>A , LRG_779t1:c.530-4T>A	NP_001020018.1:n.530-4T>A
NM_003242.5:c.455-4T>A	NP_003233.4:n.455-4T>A
XM_011534043.1:c.482-4T>A	XP_011532345.1:n.482-4T>A
XM_011534044.1:c.407-4T>A	XP_011532346.1:n.407-4T>A
XM_011534045.1:c.350-4T>A	XP_011532347.1:n.350-4T>A
XM_011534043.2:c.482-4T>A	XP_011532345.1:n.482-4T>A
XM_011534045.3:c.350-4T>A	XP_011532347.1:n.350-4T>A
XM_017007106.1:c.350-4T>A	XP_016862595.1:n.350-4T>A
NM_003242.6:c.455-4T>A MANE Select	NP_003233.4:n.455-4T>A