Canonical Allele Identifier: CA351809145

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125439399
• MyVariant Identifiers: chr3:g.30715725T>A (hg19) ; chr3:g.30674233T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674233T>A , CM000665.2:g.30674233T>A	GRCh38
NC_000003.11:g.30715725T>A , CM000665.1:g.30715725T>A	GRCh37
NC_000003.10:g.30690729T>A	NCBI36
NG_007490.1:g.72732T>A , LRG_779:g.72732T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1383T>A MANE Select	ENSP00000295754.5:p.Cys461Ter
ENST00000672866.1:n.2979T>A
ENST00000673203.1:n.261T>A
ENST00000295754.9:c.1383T>A	ENSP00000295754.5:p.Cys461Ter
ENST00000359013.4:c.1458T>A	ENSP00000351905.4:p.Cys486Ter
NM_001024847.2:c.1458T>A , LRG_779t1:c.1458T>A	NP_001020018.1:p.Cys486Ter
NM_003242.5:c.1383T>A	NP_003233.4:p.Cys461Ter
XM_011534043.1:c.1410T>A	XP_011532345.1:p.Cys470Ter
XM_011534044.1:c.1335T>A	XP_011532346.1:p.Cys445Ter
XM_011534045.1:c.1278T>A	XP_011532347.1:p.Cys426Ter
XM_011534043.2:c.1410T>A	XP_011532345.1:p.Cys470Ter
XM_011534045.3:c.1278T>A	XP_011532347.1:p.Cys426Ter
XM_017007106.1:c.1278T>A	XP_016862595.1:p.Cys426Ter
NM_003242.6:c.1383T>A MANE Select	NP_003233.4:p.Cys461Ter