Canonical Allele Identifier: CA1354880723

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30689303_30689305delinsCTA , CM000665.2:g.30689303_30689305delinsCTA	GRCh38
NC_000003.11:g.30730795_30730797delinsCTA , CM000665.1:g.30730795_30730797delinsCTA	GRCh37
NC_000003.10:g.30705799_30705801delinsCTA	NCBI36
NG_007490.1:g.87802_87804delinsCTA , LRG_779:g.87802_87804delinsCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1524+792_1524+794delinsCTA MANE Select	ENSP00000295754.5:n.1524+792_1524+794deli...
ENST00000672050.1:n.408+792_408+794delinsCTA
ENST00000672866.1:n.3120+792_3120+794delinsCTA
ENST00000673203.1:n.402+792_402+794delinsCTA
ENST00000295754.9:c.1524+792_1524+794delinsCTA	ENSP00000295754.5:n.1524+792_1524+794deli...
ENST00000359013.4:c.1599+792_1599+794delinsCTA	ENSP00000351905.4:n.1599+792_1599+794deli...
NM_001024847.2:c.1599+792_1599+794delinsCTA , LRG_779t1:c.1599+792_1599+794delinsCTA	NP_001020018.1:n.1599+792_1599+794delinsC...
NM_003242.5:c.1524+792_1524+794delinsCTA	NP_003233.4:n.1524+792_1524+794delinsCTA
XM_011534043.1:c.1551+792_1551+794delinsCTA	XP_011532345.1:n.1551+792_1551+794delinsC...
XM_011534044.1:c.1476+792_1476+794delinsCTA	XP_011532346.1:n.1476+792_1476+794delinsC...
XM_011534045.1:c.1419+792_1419+794delinsCTA	XP_011532347.1:n.1419+792_1419+794delinsC...
XM_011534043.2:c.1551+792_1551+794delinsCTA	XP_011532345.1:n.1551+792_1551+794delinsC...
XM_011534045.3:c.1419+792_1419+794delinsCTA	XP_011532347.1:n.1419+792_1419+794delinsC...
XM_017007106.1:c.1419+792_1419+794delinsCTA	XP_016862595.1:n.1419+792_1419+794delinsC...
NM_003242.6:c.1524+792_1524+794delinsCTA MANE Select	NP_003233.4:n.1524+792_1524+794delinsCTA