Canonical Allele Identifier: CA351808892

Gene: TGFBR2

Linked Data

• dbSNP Id: rs771094273
• COSMIC: COSM4999994 ; COSM4999995
• MyVariant Identifiers: chr3:g.30715609A>T (hg19) ; chr3:g.30674117A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674117A>T , CM000665.2:g.30674117A>T	GRCh38
NC_000003.11:g.30715609A>T , CM000665.1:g.30715609A>T	GRCh37
NC_000003.10:g.30690613A>T	NCBI36
NG_007490.1:g.72616A>T , LRG_779:g.72616A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1267A>T MANE Select	ENSP00000295754.5:p.Arg423Ter
ENST00000672866.1:n.2863A>T
ENST00000673203.1:n.145A>T
ENST00000295754.9:c.1267A>T	ENSP00000295754.5:p.Arg423Ter
ENST00000359013.4:c.1342A>T	ENSP00000351905.4:p.Arg448Ter
NM_001024847.2:c.1342A>T , LRG_779t1:c.1342A>T	NP_001020018.1:p.Arg448Ter
NM_003242.5:c.1267A>T	NP_003233.4:p.Arg423Ter
XM_011534043.1:c.1294A>T	XP_011532345.1:p.Arg432Ter
XM_011534044.1:c.1219A>T	XP_011532346.1:p.Arg407Ter
XM_011534045.1:c.1162A>T	XP_011532347.1:p.Arg388Ter
XM_011534043.2:c.1294A>T	XP_011532345.1:p.Arg432Ter
XM_011534045.3:c.1162A>T	XP_011532347.1:p.Arg388Ter
XM_017007106.1:c.1162A>T	XP_016862595.1:p.Arg388Ter
NM_003242.6:c.1267A>T MANE Select	NP_003233.4:p.Arg423Ter