Canonical Allele Identifier: CA020708

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691435T>C , CM000665.2:g.30691435T>C	GRCh38
NC_000003.11:g.30732927T>C , CM000665.1:g.30732927T>C	GRCh37
NC_000003.10:g.30707931T>C	NCBI36
NG_007490.1:g.89934T>C , LRG_779:g.89934T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1540T>C MANE Select	NP_003233.4:p.Cys514Arg
ENST00000295754.10:c.1540T>C MANE Select	ENSP00000295754.5:p.Cys514Arg
NM_001024847.2:c.1615T>C , LRG_779t1:c.1615T>C	NP_001020018.1:p.Cys539Arg
NM_003242.5:c.1540T>C	NP_003233.4:p.Cys514Arg
ENST00000295754.9:c.1540T>C	ENSP00000295754.5:p.Cys514Arg
ENST00000359013.4:c.1615T>C	ENSP00000351905.4:p.Cys539Arg
ENST00000672050.1:n.424T>C
ENST00000672866.1:n.3136T>C
ENST00000673203.1:n.418T>C
XM_011534043.1:c.1567T>C	XP_011532345.1:p.Cys523Arg
XM_011534043.2:c.1567T>C	XP_011532345.1:p.Cys523Arg
XM_011534044.1:c.1492T>C	XP_011532346.1:p.Cys498Arg
XM_011534045.1:c.1435T>C	XP_011532347.1:p.Cys479Arg
XM_011534045.3:c.1435T>C	XP_011532347.1:p.Cys479Arg
XM_017007106.1:c.1435T>C	XP_016862595.1:p.Cys479Arg