Canonical Allele Identifier: CA2566206933

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672347_30672348del , CM000665.2:g.30672347_30672348del	GRCh38
NC_000003.11:g.30713839_30713840del , CM000665.1:g.30713839_30713840del	GRCh37
NC_000003.10:g.30688843_30688844del	NCBI36
NG_007490.1:g.70846_70847del , LRG_779:g.70846_70847del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1164_1165del MANE Select	ENSP00000295754.5:p.Asn389ArgfsTer8
ENST00000672866.1:n.2760_2761del
ENST00000295754.9:c.1164_1165del	ENSP00000295754.5:p.Asn389ArgfsTer8
ENST00000359013.4:c.1239_1240del	ENSP00000351905.4:p.Asn414ArgfsTer8
NM_001024847.2:c.1239_1240del , LRG_779t1:c.1239_1240del	NP_001020018.1:p.Asn414ArgfsTer8
NM_003242.5:c.1164_1165del	NP_003233.4:p.Asn389ArgfsTer8
XM_011534043.1:c.1191_1192del	XP_011532345.1:p.Asn398ArgfsTer8
XM_011534044.1:c.1116_1117del	XP_011532346.1:p.Asn373ArgfsTer8
XM_011534045.1:c.1059_1060del	XP_011532347.1:p.Asn354ArgfsTer8
XM_011534043.2:c.1191_1192del	XP_011532345.1:p.Asn398ArgfsTer8
XM_011534045.3:c.1059_1060del	XP_011532347.1:p.Asn354ArgfsTer8
XM_017007106.1:c.1059_1060del	XP_016862595.1:p.Asn354ArgfsTer8
NM_003242.6:c.1164_1165del MANE Select	NP_003233.4:p.Asn389ArgfsTer8