Canonical Allele Identifier: CA2755704741

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30656476G>T , CM000665.2:g.30656476G>T	GRCh38
NC_000003.11:g.30697968G>T , CM000665.1:g.30697968G>T	GRCh37
NC_000003.10:g.30672972G>T	NCBI36
NG_007490.1:g.54975G>T , LRG_779:g.54975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.454+6016G>T MANE Select	ENSP00000295754.5:n.454+6016G>T
ENST00000672866.1:n.2050+6016G>T
ENST00000295754.9:c.454+6016G>T	ENSP00000295754.5:n.454+6016G>T
ENST00000359013.4:c.529+6016G>T	ENSP00000351905.4:n.529+6016G>T
NM_001024847.2:c.529+6016G>T , LRG_779t1:c.529+6016G>T	NP_001020018.1:n.529+6016G>T
NM_003242.5:c.454+6016G>T	NP_003233.4:n.454+6016G>T
XM_011534043.1:c.481+6016G>T	XP_011532345.1:n.481+6016G>T
XM_011534044.1:c.406+6016G>T	XP_011532346.1:n.406+6016G>T
XM_011534045.1:c.349+6016G>T	XP_011532347.1:n.349+6016G>T
XR_940692.1:n.2995G>T
XM_011534043.2:c.481+6016G>T	XP_011532345.1:n.481+6016G>T
XM_011534045.3:c.349+6016G>T	XP_011532347.1:n.349+6016G>T
XM_017007106.1:c.349+6016G>T	XP_016862595.1:n.349+6016G>T
XR_001740630.1:n.2497G>T
XR_001740631.1:n.647-1231G>T
NM_003242.6:c.454+6016G>T MANE Select	NP_003233.4:n.454+6016G>T