Canonical Allele Identifier: CA351807662

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713368T>G (hg19) ; chr3:g.30671876T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671876T>G , CM000665.2:g.30671876T>G	GRCh38
NC_000003.11:g.30713368T>G , CM000665.1:g.30713368T>G	GRCh37
NC_000003.10:g.30688372T>G	NCBI36
NG_007490.1:g.70375T>G , LRG_779:g.70375T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.693T>G MANE Select	ENSP00000295754.5:p.Cys231Trp
ENST00000672866.1:n.2289T>G
ENST00000295754.9:c.693T>G	ENSP00000295754.5:p.Cys231Trp
ENST00000359013.4:c.768T>G	ENSP00000351905.4:p.Cys256Trp
NM_001024847.2:c.768T>G , LRG_779t1:c.768T>G	NP_001020018.1:p.Cys256Trp
NM_003242.5:c.693T>G	NP_003233.4:p.Cys231Trp
XM_011534043.1:c.720T>G	XP_011532345.1:p.Cys240Trp
XM_011534044.1:c.645T>G	XP_011532346.1:p.Cys215Trp
XM_011534045.1:c.588T>G	XP_011532347.1:p.Cys196Trp
XM_011534043.2:c.720T>G	XP_011532345.1:p.Cys240Trp
XM_011534045.3:c.588T>G	XP_011532347.1:p.Cys196Trp
XM_017007106.1:c.588T>G	XP_016862595.1:p.Cys196Trp
NM_003242.6:c.693T>G MANE Select	NP_003233.4:p.Cys231Trp