Canonical Allele Identifier: CA2540151282

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672442_30672443insGTCGTTCTTCACGAGGA , CM000665.2:g.30672442_30672443insGTCGTTCTTCACGAGGA	GRCh38
NC_000003.11:g.30713934_30713935insGTCGTTCTTCACGAGGA , CM000665.1:g.30713934_30713935insGTCGTTCTTCACGAGGA	GRCh37
NC_000003.10:g.30688938_30688939insGTCGTTCTTCACGAGGA	NCBI36
NG_007490.1:g.70941_70942insGTCGTTCTTCACGAGGA , LRG_779:g.70941_70942insGTCGTTCTTCACGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1254+5_1254+6insGTCGTTCTTCACGAGGA MANE Select	ENSP00000295754.5:n.1254+5_1254+6insGTCGTTCTTCACGAGGA
ENST00000672866.1:n.2850+5_2850+6insGTCGTTCTTCACGAGGA
ENST00000295754.9:c.1254+5_1254+6insGTCGTTCTTCACGAGGA	ENSP00000295754.5:n.1254+5_1254+6insGTCGTTCTTCACGAGGA
ENST00000359013.4:c.1329+5_1329+6insGTCGTTCTTCACGAGGA	ENSP00000351905.4:n.1329+5_1329+6insGTCGTTCTTCACGAGGA
NM_001024847.2:c.1329+5_1329+6insGTCGTTCTTCACGAGGA , LRG_779t1:c.1329+5_1329+6insGTCGTTCTTCACGAGGA	NP_001020018.1:n.1329+5_1329+6insGTCGTTCTTCACGAGGA
NM_003242.5:c.1254+5_1254+6insGTCGTTCTTCACGAGGA	NP_003233.4:n.1254+5_1254+6insGTCGTTCTTCACGAGGA
XM_011534043.1:c.1281+5_1281+6insGTCGTTCTTCACGAGGA	XP_011532345.1:n.1281+5_1281+6insGTCGTTCTTCACGAGGA
XM_011534044.1:c.1206+5_1206+6insGTCGTTCTTCACGAGGA	XP_011532346.1:n.1206+5_1206+6insGTCGTTCTTCACGAGGA
XM_011534045.1:c.1149+5_1149+6insGTCGTTCTTCACGAGGA	XP_011532347.1:n.1149+5_1149+6insGTCGTTCTTCACGAGGA
XM_011534043.2:c.1281+5_1281+6insGTCGTTCTTCACGAGGA	XP_011532345.1:n.1281+5_1281+6insGTCGTTCTTCACGAGGA
XM_011534045.3:c.1149+5_1149+6insGTCGTTCTTCACGAGGA	XP_011532347.1:n.1149+5_1149+6insGTCGTTCTTCACGAGGA
XM_017007106.1:c.1149+5_1149+6insGTCGTTCTTCACGAGGA	XP_016862595.1:n.1149+5_1149+6insGTCGTTCTTCACGAGGA
NM_003242.6:c.1254+5_1254+6insGTCGTTCTTCACGAGGA MANE Select	NP_003233.4:n.1254+5_1254+6insGTCGTTCTTCACGAGGA