Canonical Allele Identifier: CA351808471

Gene: TGFBR2

Linked Data

• dbSNP Id: rs370995723
• MyVariant Identifiers: chr3:g.30713745G>A (hg19) ; chr3:g.30672253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672253G>A , CM000665.2:g.30672253G>A	GRCh38
NC_000003.11:g.30713745G>A , CM000665.1:g.30713745G>A	GRCh37
NC_000003.10:g.30688749G>A	NCBI36
NG_007490.1:g.70752G>A , LRG_779:g.70752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1070G>A MANE Select	ENSP00000295754.5:p.Gly357Glu
ENST00000672866.1:n.2666G>A
ENST00000295754.9:c.1070G>A	ENSP00000295754.5:p.Gly357Glu
ENST00000359013.4:c.1145G>A	ENSP00000351905.4:p.Gly382Glu
NM_001024847.2:c.1145G>A , LRG_779t1:c.1145G>A	NP_001020018.1:p.Gly382Glu
NM_003242.5:c.1070G>A	NP_003233.4:p.Gly357Glu
XM_011534043.1:c.1097G>A	XP_011532345.1:p.Gly366Glu
XM_011534044.1:c.1022G>A	XP_011532346.1:p.Gly341Glu
XM_011534045.1:c.965G>A	XP_011532347.1:p.Gly322Glu
XM_011534043.2:c.1097G>A	XP_011532345.1:p.Gly366Glu
XM_011534045.3:c.965G>A	XP_011532347.1:p.Gly322Glu
XM_017007106.1:c.965G>A	XP_016862595.1:p.Gly322Glu
NM_003242.6:c.1070G>A MANE Select	NP_003233.4:p.Gly357Glu