Canonical Allele Identifier: CA433058283

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125433893
• MyVariant Identifiers: chr3:g.30713335G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671843G>A , CM000665.2:g.30671843G>A	GRCh38
NC_000003.11:g.30713335G>A , CM000665.1:g.30713335G>A	GRCh37
NC_000003.10:g.30688339G>A	NCBI36
NG_007490.1:g.70342G>A , LRG_779:g.70342G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.660G>A MANE Select	ENSP00000295754.5:p.Leu220=
ENST00000672866.1:n.2256G>A
ENST00000295754.9:c.660G>A	ENSP00000295754.5:p.Leu220=
ENST00000359013.4:c.735G>A	ENSP00000351905.4:p.Leu245=
NM_001024847.2:c.735G>A , LRG_779t1:c.735G>A	NP_001020018.1:p.Leu245=
NM_003242.5:c.660G>A	NP_003233.4:p.Leu220=
XM_011534043.1:c.687G>A	XP_011532345.1:p.Leu229=
XM_011534044.1:c.612G>A	XP_011532346.1:p.Leu204=
XM_011534045.1:c.555G>A	XP_011532347.1:p.Leu185=
XM_011534043.2:c.687G>A	XP_011532345.1:p.Leu229=
XM_011534045.3:c.555G>A	XP_011532347.1:p.Leu185=
XM_017007106.1:c.555G>A	XP_016862595.1:p.Leu185=
NM_003242.6:c.660G>A MANE Select	NP_003233.4:p.Leu220=