Canonical Allele Identifier: CA046456

Gene: TGFBR2

Linked Data

• dbSNP Id: rs756557655
• ExAC: 3:30715780 T / A
• gnomAD v2: 3-30715780-T-A
• gnomAD v4: 3-30674288-T-A
• MyVariant Identifiers: chr3:g.30715780T>A (hg19) ; chr3:g.30674288T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674288T>A , CM000665.2:g.30674288T>A	GRCh38
NC_000003.11:g.30715780T>A , CM000665.1:g.30715780T>A	GRCh37
NC_000003.10:g.30690784T>A	NCBI36
NG_007490.1:g.72787T>A , LRG_779:g.72787T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1396+42T>A MANE Select	ENSP00000295754.5:n.1396+42T>A
ENST00000672866.1:n.2992+42T>A
ENST00000673203.1:n.274+42T>A
ENST00000295754.9:c.1396+42T>A	ENSP00000295754.5:n.1396+42T>A
ENST00000359013.4:c.1471+42T>A	ENSP00000351905.4:n.1471+42T>A
NM_001024847.2:c.1471+42T>A , LRG_779t1:c.1471+42T>A	NP_001020018.1:n.1471+42T>A
NM_003242.5:c.1396+42T>A	NP_003233.4:n.1396+42T>A
XM_011534043.1:c.1423+42T>A	XP_011532345.1:n.1423+42T>A
XM_011534044.1:c.1348+42T>A	XP_011532346.1:n.1348+42T>A
XM_011534045.1:c.1291+42T>A	XP_011532347.1:n.1291+42T>A
XM_011534043.2:c.1423+42T>A	XP_011532345.1:n.1423+42T>A
XM_011534045.3:c.1291+42T>A	XP_011532347.1:n.1291+42T>A
XM_017007106.1:c.1291+42T>A	XP_016862595.1:n.1291+42T>A
NM_003242.6:c.1396+42T>A MANE Select	NP_003233.4:n.1396+42T>A