Canonical Allele Identifier: CA432917713

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125438921
• gnomAD v4: 3-30674146-C-G
• MyVariant Identifiers: chr3:g.30715638C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674146C>G , CM000665.2:g.30674146C>G	GRCh38
NC_000003.11:g.30715638C>G , CM000665.1:g.30715638C>G	GRCh37
NC_000003.10:g.30690642C>G	NCBI36
NG_007490.1:g.72645C>G , LRG_779:g.72645C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1296C>G MANE Select	ENSP00000295754.5:p.Ser432=
ENST00000672866.1:n.2892C>G
ENST00000673203.1:n.174C>G
ENST00000295754.9:c.1296C>G	ENSP00000295754.5:p.Ser432=
ENST00000359013.4:c.1371C>G	ENSP00000351905.4:p.Ser457=
NM_001024847.2:c.1371C>G , LRG_779t1:c.1371C>G	NP_001020018.1:p.Ser457=
NM_003242.5:c.1296C>G	NP_003233.4:p.Ser432=
XM_011534043.1:c.1323C>G	XP_011532345.1:p.Ser441=
XM_011534044.1:c.1248C>G	XP_011532346.1:p.Ser416=
XM_011534045.1:c.1191C>G	XP_011532347.1:p.Ser397=
XM_011534043.2:c.1323C>G	XP_011532345.1:p.Ser441=
XM_011534045.3:c.1191C>G	XP_011532347.1:p.Ser397=
XM_017007106.1:c.1191C>G	XP_016862595.1:p.Ser397=
NM_003242.6:c.1296C>G MANE Select	NP_003233.4:p.Ser432=