Canonical Allele Identifier: CA351809620

Gene: TGFBR2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1592C>A MANE Select	NP_003233.4:p.Ala531Asp
ENST00000295754.10:c.1592C>A MANE Select	ENSP00000295754.5:p.Ala531Asp
NM_001024847.2:c.1667C>A , LRG_779t1:c.1667C>A	NP_001020018.1:p.Ala556Asp
NM_003242.5:c.1592C>A	NP_003233.4:p.Ala531Asp
ENST00000295754.9:c.1592C>A	ENSP00000295754.5:p.Ala531Asp
ENST00000359013.4:c.1667C>A	ENSP00000351905.4:p.Ala556Asp
ENST00000672050.1:n.476C>A
ENST00000672866.1:n.3188C>A
ENST00000673203.1:n.470C>A
XM_011534043.1:c.1619C>A	XP_011532345.1:p.Ala540Asp
XM_011534043.2:c.1619C>A	XP_011532345.1:p.Ala540Asp
XM_011534044.1:c.1544C>A	XP_011532346.1:p.Ala515Asp
XM_011534045.1:c.1487C>A	XP_011532347.1:p.Ala496Asp
XM_011534045.3:c.1487C>A	XP_011532347.1:p.Ala496Asp
XM_017007106.1:c.1487C>A	XP_016862595.1:p.Ala496Asp