Canonical Allele Identifier: CA351809476

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 661803
• ClinVar RCV Id: RCV000819301
• dbSNP Id: rs1575166620
• MyVariant Identifiers: chr3:g.30732912G>A (hg19) ; chr3:g.30691420G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691420G>A , CM000665.2:g.30691420G>A	GRCh38
NC_000003.11:g.30732912G>A , CM000665.1:g.30732912G>A	GRCh37
NC_000003.10:g.30707916G>A	NCBI36
NG_007490.1:g.89919G>A , LRG_779:g.89919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1525G>A MANE Select	ENSP00000295754.5:p.Gly509Ser
ENST00000672050.1:n.409G>A
ENST00000672866.1:n.3121G>A
ENST00000673203.1:n.403G>A
ENST00000295754.9:c.1525G>A	ENSP00000295754.5:p.Gly509Ser
ENST00000359013.4:c.1600G>A	ENSP00000351905.4:p.Gly534Ser
NM_001024847.2:c.1600G>A , LRG_779t1:c.1600G>A	NP_001020018.1:p.Gly534Ser
NM_003242.5:c.1525G>A	NP_003233.4:p.Gly509Ser
XM_011534043.1:c.1552G>A	XP_011532345.1:p.Gly518Ser
XM_011534044.1:c.1477G>A	XP_011532346.1:p.Gly493Ser
XM_011534045.1:c.1420G>A	XP_011532347.1:p.Gly474Ser
XM_011534043.2:c.1552G>A	XP_011532345.1:p.Gly518Ser
XM_011534045.3:c.1420G>A	XP_011532347.1:p.Gly474Ser
XM_017007106.1:c.1420G>A	XP_016862595.1:p.Gly474Ser
NM_003242.6:c.1525G>A MANE Select	NP_003233.4:p.Gly509Ser