Canonical Allele Identifier: CA351807509

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671808C>T , CM000665.2:g.30671808C>T	GRCh38
NC_000003.11:g.30713300C>T , CM000665.1:g.30713300C>T	GRCh37
NC_000003.10:g.30688304C>T	NCBI36
NG_007490.1:g.70307C>T , LRG_779:g.70307C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.625C>T MANE Select	NP_003233.4:p.Leu209Phe
ENST00000295754.10:c.625C>T MANE Select	ENSP00000295754.5:p.Leu209Phe
NM_001024847.2:c.700C>T , LRG_779t1:c.700C>T	NP_001020018.1:p.Leu234Phe
NM_003242.5:c.625C>T	NP_003233.4:p.Leu209Phe
ENST00000295754.9:c.625C>T	ENSP00000295754.5:p.Leu209Phe
ENST00000359013.4:c.700C>T	ENSP00000351905.4:p.Leu234Phe
ENST00000672866.1:n.2221C>T
XM_011534043.1:c.652C>T	XP_011532345.1:p.Leu218Phe
XM_011534043.2:c.652C>T	XP_011532345.1:p.Leu218Phe
XM_011534044.1:c.577C>T	XP_011532346.1:p.Leu193Phe
XM_011534045.1:c.520C>T	XP_011532347.1:p.Leu174Phe
XM_011534045.3:c.520C>T	XP_011532347.1:p.Leu174Phe
XM_017007106.1:c.520C>T	XP_016862595.1:p.Leu174Phe