Canonical Allele Identifier: CA049279

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 403531
• ClinVar RCV Id: RCV000455175 ; RCV000765720 ; RCV001269947 ; RCV001180574 ; RCV001149562
• dbSNP Id: rs780542125
• ExAC: 3:30713244 G / A
• gnomAD v2: 3-30713244-G-A
• gnomAD v3: 3-30671752-G-A
• gnomAD v4: 3-30671752-G-A
• COSMIC: COSM2983490 ; COSM2983491
• MyVariant Identifiers: chr3:g.30713244G>A (hg19) ; chr3:g.30671752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671752G>A , CM000665.2:g.30671752G>A	GRCh38
NC_000003.11:g.30713244G>A , CM000665.1:g.30713244G>A	GRCh37
NC_000003.10:g.30688248G>A	NCBI36
NG_007490.1:g.70251G>A , LRG_779:g.70251G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.569G>A MANE Select	ENSP00000295754.5:p.Arg190His
ENST00000672866.1:n.2165G>A
ENST00000295754.9:c.569G>A	ENSP00000295754.5:p.Arg190His
ENST00000359013.4:c.644G>A	ENSP00000351905.4:p.Arg215His
NM_001024847.2:c.644G>A , LRG_779t1:c.644G>A	NP_001020018.1:p.Arg215His
NM_003242.5:c.569G>A	NP_003233.4:p.Arg190His
XM_011534043.1:c.596G>A	XP_011532345.1:p.Arg199His
XM_011534044.1:c.521G>A	XP_011532346.1:p.Arg174His
XM_011534045.1:c.464G>A	XP_011532347.1:p.Arg155His
XM_011534043.2:c.596G>A	XP_011532345.1:p.Arg199His
XM_011534045.3:c.464G>A	XP_011532347.1:p.Arg155His
XM_017007106.1:c.464G>A	XP_016862595.1:p.Arg155His
NM_003242.6:c.569G>A MANE Select	NP_003233.4:p.Arg190His