Canonical Allele Identifier: CA351808221

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125435255
• MyVariant Identifiers: chr3:g.30713621G>A (hg19) ; chr3:g.30672129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672129G>A , CM000665.2:g.30672129G>A	GRCh38
NC_000003.11:g.30713621G>A , CM000665.1:g.30713621G>A	GRCh37
NC_000003.10:g.30688625G>A	NCBI36
NG_007490.1:g.70628G>A , LRG_779:g.70628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.946G>A MANE Select	ENSP00000295754.5:p.Glu316Lys
ENST00000672866.1:n.2542G>A
ENST00000295754.9:c.946G>A	ENSP00000295754.5:p.Glu316Lys
ENST00000359013.4:c.1021G>A	ENSP00000351905.4:p.Glu341Lys
NM_001024847.2:c.1021G>A , LRG_779t1:c.1021G>A	NP_001020018.1:p.Glu341Lys
NM_003242.5:c.946G>A	NP_003233.4:p.Glu316Lys
XM_011534043.1:c.973G>A	XP_011532345.1:p.Glu325Lys
XM_011534044.1:c.898G>A	XP_011532346.1:p.Glu300Lys
XM_011534045.1:c.841G>A	XP_011532347.1:p.Glu281Lys
XM_011534043.2:c.973G>A	XP_011532345.1:p.Glu325Lys
XM_011534045.3:c.841G>A	XP_011532347.1:p.Glu281Lys
XM_017007106.1:c.841G>A	XP_016862595.1:p.Glu281Lys
NM_003242.6:c.946G>A MANE Select	NP_003233.4:p.Glu316Lys