Canonical Allele Identifier: CA049589

Gene: TGFBR2

Linked Data

• dbSNP Id: rs781692282
• ExAC: 3:30713342 G / A
• gnomAD v2: 3-30713342-G-A
• gnomAD v4: 3-30671850-G-A
• MyVariant Identifiers: chr3:g.30713342G>A (hg19) ; chr3:g.30671850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671850G>A , CM000665.2:g.30671850G>A	GRCh38
NC_000003.11:g.30713342G>A , CM000665.1:g.30713342G>A	GRCh37
NC_000003.10:g.30688346G>A	NCBI36
NG_007490.1:g.70349G>A , LRG_779:g.70349G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.667G>A MANE Select	ENSP00000295754.5:p.Asp223Asn
ENST00000672866.1:n.2263G>A
ENST00000295754.9:c.667G>A	ENSP00000295754.5:p.Asp223Asn
ENST00000359013.4:c.742G>A	ENSP00000351905.4:p.Asp248Asn
NM_001024847.2:c.742G>A , LRG_779t1:c.742G>A	NP_001020018.1:p.Asp248Asn
NM_003242.5:c.667G>A	NP_003233.4:p.Asp223Asn
XM_011534043.1:c.694G>A	XP_011532345.1:p.Asp232Asn
XM_011534044.1:c.619G>A	XP_011532346.1:p.Asp207Asn
XM_011534045.1:c.562G>A	XP_011532347.1:p.Asp188Asn
XM_011534043.2:c.694G>A	XP_011532345.1:p.Asp232Asn
XM_011534045.3:c.562G>A	XP_011532347.1:p.Asp188Asn
XM_017007106.1:c.562G>A	XP_016862595.1:p.Asp188Asn
NM_003242.6:c.667G>A MANE Select	NP_003233.4:p.Asp223Asn