Canonical Allele Identifier: CA2577536133

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30623188C>A , CM000665.2:g.30623188C>A	GRCh38
NC_000003.11:g.30664680C>A , CM000665.1:g.30664680C>A	GRCh37
NC_000003.10:g.30639684C>A	NCBI36
NG_007490.1:g.21687C>A , LRG_779:g.21687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+16211C>A MANE Select	ENSP00000295754.5:n.94+16211C>A
ENST00000673250.1:n.144-11C>A
ENST00000295754.9:c.94+16211C>A	ENSP00000295754.5:n.94+16211C>A
ENST00000359013.4:c.95-11C>A	ENSP00000351905.4:n.95-11C>A
NM_001024847.2:c.95-11C>A , LRG_779t1:c.95-11C>A	NP_001020018.1:n.95-11C>A
NM_003242.5:c.94+16211C>A	NP_003233.4:n.94+16211C>A
XM_011534043.1:c.47-11C>A	XP_011532345.1:n.47-11C>A
XM_011534044.1:c.46+8482C>A	XP_011532346.1:n.46+8482C>A
XM_011534045.1:c.-12+16595C>A	XP_011532347.1:n.-12+16595C>A
XM_011534043.2:c.47-11C>A	XP_011532345.1:n.47-11C>A
XM_011534045.3:c.-12+16595C>A	XP_011532347.1:n.-12+16595C>A
NM_003242.6:c.94+16211C>A MANE Select	NP_003233.4:n.94+16211C>A