Canonical Allele Identifier: CA020724

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691475C>T , CM000665.2:g.30691475C>T	GRCh38
NC_000003.11:g.30732967C>T , CM000665.1:g.30732967C>T	GRCh37
NC_000003.10:g.30707971C>T	NCBI36
NG_007490.1:g.89974C>T , LRG_779:g.89974C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1580C>T MANE Select	NP_003233.4:p.Ala527Val
ENST00000295754.10:c.1580C>T MANE Select	ENSP00000295754.5:p.Ala527Val
NM_001024847.2:c.1655C>T , LRG_779t1:c.1655C>T	NP_001020018.1:p.Ala552Val
NM_003242.5:c.1580C>T	NP_003233.4:p.Ala527Val
ENST00000295754.9:c.1580C>T	ENSP00000295754.5:p.Ala527Val
ENST00000359013.4:c.1655C>T	ENSP00000351905.4:p.Ala552Val
ENST00000672050.1:n.464C>T
ENST00000672866.1:n.3176C>T
ENST00000673203.1:n.458C>T
XM_011534043.1:c.1607C>T	XP_011532345.1:p.Ala536Val
XM_011534043.2:c.1607C>T	XP_011532345.1:p.Ala536Val
XM_011534044.1:c.1532C>T	XP_011532346.1:p.Ala511Val
XM_011534045.1:c.1475C>T	XP_011532347.1:p.Ala492Val
XM_011534045.3:c.1475C>T	XP_011532347.1:p.Ala492Val
XM_017007106.1:c.1475C>T	XP_016862595.1:p.Ala492Val