Canonical Allele Identifier: CA432917841

Gene: TGFBR2

Linked Data

• dbSNP Id: rs863223852
• gnomAD v2: 3-30729968-C-A
• gnomAD v4: 3-30688476-C-A
• MyVariant Identifiers: chr3:g.30729968C>A (hg19) ; chr3:g.30688476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688476C>A , CM000665.2:g.30688476C>A	GRCh38
NC_000003.11:g.30729968C>A , CM000665.1:g.30729968C>A	GRCh37
NC_000003.10:g.30704972C>A	NCBI36
NG_007490.1:g.86975C>A , LRG_779:g.86975C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1489C>A MANE Select	ENSP00000295754.5:p.Arg497=
ENST00000672050.1:n.373C>A
ENST00000672866.1:n.3085C>A
ENST00000673203.1:n.367C>A
ENST00000295754.9:c.1489C>A	ENSP00000295754.5:p.Arg497=
ENST00000359013.4:c.1564C>A	ENSP00000351905.4:p.Arg522=
NM_001024847.2:c.1564C>A , LRG_779t1:c.1564C>A	NP_001020018.1:p.Arg522=
NM_003242.5:c.1489C>A	NP_003233.4:p.Arg497=
XM_011534043.1:c.1516C>A	XP_011532345.1:p.Arg506=
XM_011534044.1:c.1441C>A	XP_011532346.1:p.Arg481=
XM_011534045.1:c.1384C>A	XP_011532347.1:p.Arg462=
XM_011534043.2:c.1516C>A	XP_011532345.1:p.Arg506=
XM_011534045.3:c.1384C>A	XP_011532347.1:p.Arg462=
XM_017007106.1:c.1384C>A	XP_016862595.1:p.Arg462=
NM_003242.6:c.1489C>A MANE Select	NP_003233.4:p.Arg497=