Canonical Allele Identifier: CA351807718

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713391C>T (hg19) ; chr3:g.30671899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671899C>T , CM000665.2:g.30671899C>T	GRCh38
NC_000003.11:g.30713391C>T , CM000665.1:g.30713391C>T	GRCh37
NC_000003.10:g.30688395C>T	NCBI36
NG_007490.1:g.70398C>T , LRG_779:g.70398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.716C>T MANE Select	ENSP00000295754.5:p.Thr239Ile
ENST00000672866.1:n.2312C>T
ENST00000295754.9:c.716C>T	ENSP00000295754.5:p.Thr239Ile
ENST00000359013.4:c.791C>T	ENSP00000351905.4:p.Thr264Ile
NM_001024847.2:c.791C>T , LRG_779t1:c.791C>T	NP_001020018.1:p.Thr264Ile
NM_003242.5:c.716C>T	NP_003233.4:p.Thr239Ile
XM_011534043.1:c.743C>T	XP_011532345.1:p.Thr248Ile
XM_011534044.1:c.668C>T	XP_011532346.1:p.Thr223Ile
XM_011534045.1:c.611C>T	XP_011532347.1:p.Thr204Ile
XM_011534043.2:c.743C>T	XP_011532345.1:p.Thr248Ile
XM_011534045.3:c.611C>T	XP_011532347.1:p.Thr204Ile
XM_017007106.1:c.611C>T	XP_016862595.1:p.Thr204Ile
NM_003242.6:c.716C>T MANE Select	NP_003233.4:p.Thr239Ile