Canonical Allele Identifier: CA351808264

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1767679
• ClinVar RCV Id: RCV002376507
• dbSNP Id: rs863223858
• gnomAD v3: 3-30672147-T-C
• gnomAD v4: 3-30672147-T-C
• MyVariant Identifiers: chr3:g.30713639T>C (hg19) ; chr3:g.30672147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672147T>C , CM000665.2:g.30672147T>C	GRCh38
NC_000003.11:g.30713639T>C , CM000665.1:g.30713639T>C	GRCh37
NC_000003.10:g.30688643T>C	NCBI36
NG_007490.1:g.70646T>C , LRG_779:g.70646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.964T>C MANE Select	ENSP00000295754.5:p.Trp322Arg
ENST00000672866.1:n.2560T>C
ENST00000295754.9:c.964T>C	ENSP00000295754.5:p.Trp322Arg
ENST00000359013.4:c.1039T>C	ENSP00000351905.4:p.Trp347Arg
NM_001024847.2:c.1039T>C , LRG_779t1:c.1039T>C	NP_001020018.1:p.Trp347Arg
NM_003242.5:c.964T>C	NP_003233.4:p.Trp322Arg
XM_011534043.1:c.991T>C	XP_011532345.1:p.Trp331Arg
XM_011534044.1:c.916T>C	XP_011532346.1:p.Trp306Arg
XM_011534045.1:c.859T>C	XP_011532347.1:p.Trp287Arg
XM_011534043.2:c.991T>C	XP_011532345.1:p.Trp331Arg
XM_011534045.3:c.859T>C	XP_011532347.1:p.Trp287Arg
XM_017007106.1:c.859T>C	XP_016862595.1:p.Trp287Arg
NM_003242.6:c.964T>C MANE Select	NP_003233.4:p.Trp322Arg