Canonical Allele Identifier: CA2702373970

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2895598
• ClinVar RCV Id: RCV003642613
• dbSNP Id: rs2125437195

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672446G>T , CM000665.2:g.30672446G>T	GRCh38
NC_000003.11:g.30713938G>T , CM000665.1:g.30713938G>T	GRCh37
NC_000003.10:g.30688942G>T	NCBI36
NG_007490.1:g.70945G>T , LRG_779:g.70945G>T

Transcript Alleles

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