Canonical Allele Identifier: CA351807739

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713402C>A (hg19) ; chr3:g.30671910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671910C>A , CM000665.2:g.30671910C>A	GRCh38
NC_000003.11:g.30713402C>A , CM000665.1:g.30713402C>A	GRCh37
NC_000003.10:g.30688406C>A	NCBI36
NG_007490.1:g.70409C>A , LRG_779:g.70409C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.727C>A MANE Select	ENSP00000295754.5:p.Pro243Thr
ENST00000672866.1:n.2323C>A
ENST00000295754.9:c.727C>A	ENSP00000295754.5:p.Pro243Thr
ENST00000359013.4:c.802C>A	ENSP00000351905.4:p.Pro268Thr
NM_001024847.2:c.802C>A , LRG_779t1:c.802C>A	NP_001020018.1:p.Pro268Thr
NM_003242.5:c.727C>A	NP_003233.4:p.Pro243Thr
XM_011534043.1:c.754C>A	XP_011532345.1:p.Pro252Thr
XM_011534044.1:c.679C>A	XP_011532346.1:p.Pro227Thr
XM_011534045.1:c.622C>A	XP_011532347.1:p.Pro208Thr
XM_011534043.2:c.754C>A	XP_011532345.1:p.Pro252Thr
XM_011534045.3:c.622C>A	XP_011532347.1:p.Pro208Thr
XM_017007106.1:c.622C>A	XP_016862595.1:p.Pro208Thr
NM_003242.6:c.727C>A MANE Select	NP_003233.4:p.Pro243Thr