Canonical Allele Identifier: CA351808268

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1335113103
• gnomAD v4: 3-30672149-G-A
• MyVariant Identifiers: chr3:g.30713641G>A (hg19) ; chr3:g.30672149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672149G>A , CM000665.2:g.30672149G>A	GRCh38
NC_000003.11:g.30713641G>A , CM000665.1:g.30713641G>A	GRCh37
NC_000003.10:g.30688645G>A	NCBI36
NG_007490.1:g.70648G>A , LRG_779:g.70648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.966G>A MANE Select	ENSP00000295754.5:p.Trp322Ter
ENST00000672866.1:n.2562G>A
ENST00000295754.9:c.966G>A	ENSP00000295754.5:p.Trp322Ter
ENST00000359013.4:c.1041G>A	ENSP00000351905.4:p.Trp347Ter
NM_001024847.2:c.1041G>A , LRG_779t1:c.1041G>A	NP_001020018.1:p.Trp347Ter
NM_003242.5:c.966G>A	NP_003233.4:p.Trp322Ter
XM_011534043.1:c.993G>A	XP_011532345.1:p.Trp331Ter
XM_011534044.1:c.918G>A	XP_011532346.1:p.Trp306Ter
XM_011534045.1:c.861G>A	XP_011532347.1:p.Trp287Ter
XM_011534043.2:c.993G>A	XP_011532345.1:p.Trp331Ter
XM_011534045.3:c.861G>A	XP_011532347.1:p.Trp287Ter
XM_017007106.1:c.861G>A	XP_016862595.1:p.Trp287Ter
NM_003242.6:c.966G>A MANE Select	NP_003233.4:p.Trp322Ter