Canonical Allele Identifier: CA046720

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688477G>A , CM000665.2:g.30688477G>A	GRCh38
NC_000003.11:g.30729969G>A , CM000665.1:g.30729969G>A	GRCh37
NC_000003.10:g.30704973G>A	NCBI36
NG_007490.1:g.86976G>A , LRG_779:g.86976G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1490G>A MANE Select	NP_003233.4:p.Arg497Gln
ENST00000295754.10:c.1490G>A MANE Select	ENSP00000295754.5:p.Arg497Gln
NM_001024847.2:c.1565G>A , LRG_779t1:c.1565G>A	NP_001020018.1:p.Arg522Gln
NM_003242.5:c.1490G>A	NP_003233.4:p.Arg497Gln
ENST00000295754.9:c.1490G>A	ENSP00000295754.5:p.Arg497Gln
ENST00000359013.4:c.1565G>A	ENSP00000351905.4:p.Arg522Gln
ENST00000672050.1:n.374G>A
ENST00000672866.1:n.3086G>A
ENST00000673203.1:n.368G>A
XM_011534043.1:c.1517G>A	XP_011532345.1:p.Arg506Gln
XM_011534043.2:c.1517G>A	XP_011532345.1:p.Arg506Gln
XM_011534044.1:c.1442G>A	XP_011532346.1:p.Arg481Gln
XM_011534045.1:c.1385G>A	XP_011532347.1:p.Arg462Gln
XM_011534045.3:c.1385G>A	XP_011532347.1:p.Arg462Gln
XM_017007106.1:c.1385G>A	XP_016862595.1:p.Arg462Gln