Canonical Allele Identifier: CA351809618

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691486G>C , CM000665.2:g.30691486G>C	GRCh38
NC_000003.11:g.30732978G>C , CM000665.1:g.30732978G>C	GRCh37
NC_000003.10:g.30707982G>C	NCBI36
NG_007490.1:g.89985G>C , LRG_779:g.89985G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1591G>C MANE Select	NP_003233.4:p.Ala531Pro
ENST00000295754.10:c.1591G>C MANE Select	ENSP00000295754.5:p.Ala531Pro
NM_001024847.2:c.1666G>C , LRG_779t1:c.1666G>C	NP_001020018.1:p.Ala556Pro
NM_003242.5:c.1591G>C	NP_003233.4:p.Ala531Pro
ENST00000295754.9:c.1591G>C	ENSP00000295754.5:p.Ala531Pro
ENST00000359013.4:c.1666G>C	ENSP00000351905.4:p.Ala556Pro
ENST00000672050.1:n.475G>C
ENST00000672866.1:n.3187G>C
ENST00000673203.1:n.469G>C
XM_011534043.1:c.1618G>C	XP_011532345.1:p.Ala540Pro
XM_011534043.2:c.1618G>C	XP_011532345.1:p.Ala540Pro
XM_011534044.1:c.1543G>C	XP_011532346.1:p.Ala515Pro
XM_011534045.1:c.1486G>C	XP_011532347.1:p.Ala496Pro
XM_011534045.3:c.1486G>C	XP_011532347.1:p.Ala496Pro
XM_017007106.1:c.1486G>C	XP_016862595.1:p.Ala496Pro