Canonical Allele Identifier: CA351809621

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125455358
• MyVariant Identifiers: chr3:g.30732979C>G (hg19) ; chr3:g.30691487C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691487C>G , CM000665.2:g.30691487C>G	GRCh38
NC_000003.11:g.30732979C>G , CM000665.1:g.30732979C>G	GRCh37
NC_000003.10:g.30707983C>G	NCBI36
NG_007490.1:g.89986C>G , LRG_779:g.89986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1592C>G MANE Select	ENSP00000295754.5:p.Ala531Gly
ENST00000672050.1:n.476C>G
ENST00000672866.1:n.3188C>G
ENST00000673203.1:n.470C>G
ENST00000295754.9:c.1592C>G	ENSP00000295754.5:p.Ala531Gly
ENST00000359013.4:c.1667C>G	ENSP00000351905.4:p.Ala556Gly
NM_001024847.2:c.1667C>G , LRG_779t1:c.1667C>G	NP_001020018.1:p.Ala556Gly
NM_003242.5:c.1592C>G	NP_003233.4:p.Ala531Gly
XM_011534043.1:c.1619C>G	XP_011532345.1:p.Ala540Gly
XM_011534044.1:c.1544C>G	XP_011532346.1:p.Ala515Gly
XM_011534045.1:c.1487C>G	XP_011532347.1:p.Ala496Gly
XM_011534043.2:c.1619C>G	XP_011532345.1:p.Ala540Gly
XM_011534045.3:c.1487C>G	XP_011532347.1:p.Ala496Gly
XM_017007106.1:c.1487C>G	XP_016862595.1:p.Ala496Gly
NM_003242.6:c.1592C>G MANE Select	NP_003233.4:p.Ala531Gly