Canonical Allele Identifier: CA1046448105

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699388165
• gnomAD v3: 3-30674035-C-A
• gnomAD v4: 3-30674035-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674035C>A , CM000665.2:g.30674035C>A	GRCh38
NC_000003.11:g.30715527C>A , CM000665.1:g.30715527C>A	GRCh37
NC_000003.10:g.30690531C>A	NCBI36
NG_007490.1:g.72534C>A , LRG_779:g.72534C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1255-70C>A MANE Select	ENSP00000295754.5:n.1255-70C>A
ENST00000672866.1:n.2851-70C>A
ENST00000673203.1:n.63C>A
ENST00000295754.9:c.1255-70C>A	ENSP00000295754.5:n.1255-70C>A
ENST00000359013.4:c.1330-70C>A	ENSP00000351905.4:n.1330-70C>A
NM_001024847.2:c.1330-70C>A , LRG_779t1:c.1330-70C>A	NP_001020018.1:n.1330-70C>A
NM_003242.5:c.1255-70C>A	NP_003233.4:n.1255-70C>A
XM_011534043.1:c.1282-70C>A	XP_011532345.1:n.1282-70C>A
XM_011534044.1:c.1207-70C>A	XP_011532346.1:n.1207-70C>A
XM_011534045.1:c.1150-70C>A	XP_011532347.1:n.1150-70C>A
XM_011534043.2:c.1282-70C>A	XP_011532345.1:n.1282-70C>A
XM_011534045.3:c.1150-70C>A	XP_011532347.1:n.1150-70C>A
XM_017007106.1:c.1150-70C>A	XP_016862595.1:n.1150-70C>A
NM_003242.6:c.1255-70C>A MANE Select	NP_003233.4:n.1255-70C>A