Canonical Allele Identifier: CA046442

Gene: TGFBR2

Linked Data

• dbSNP Id: rs752392789
• ExAC: 3:30715759 T / C
• gnomAD v2: 3-30715759-T-C
• gnomAD v4: 3-30674267-T-C
• MyVariant Identifiers: chr3:g.30715759T>C (hg19) ; chr3:g.30674267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674267T>C , CM000665.2:g.30674267T>C	GRCh38
NC_000003.11:g.30715759T>C , CM000665.1:g.30715759T>C	GRCh37
NC_000003.10:g.30690763T>C	NCBI36
NG_007490.1:g.72766T>C , LRG_779:g.72766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1396+21T>C MANE Select	ENSP00000295754.5:n.1396+21T>C
ENST00000672866.1:n.2992+21T>C
ENST00000673203.1:n.274+21T>C
ENST00000295754.9:c.1396+21T>C	ENSP00000295754.5:n.1396+21T>C
ENST00000359013.4:c.1471+21T>C	ENSP00000351905.4:n.1471+21T>C
NM_001024847.2:c.1471+21T>C , LRG_779t1:c.1471+21T>C	NP_001020018.1:n.1471+21T>C
NM_003242.5:c.1396+21T>C	NP_003233.4:n.1396+21T>C
XM_011534043.1:c.1423+21T>C	XP_011532345.1:n.1423+21T>C
XM_011534044.1:c.1348+21T>C	XP_011532346.1:n.1348+21T>C
XM_011534045.1:c.1291+21T>C	XP_011532347.1:n.1291+21T>C
XM_011534043.2:c.1423+21T>C	XP_011532345.1:n.1423+21T>C
XM_011534045.3:c.1291+21T>C	XP_011532347.1:n.1291+21T>C
XM_017007106.1:c.1291+21T>C	XP_016862595.1:n.1291+21T>C
NM_003242.6:c.1396+21T>C MANE Select	NP_003233.4:n.1396+21T>C