Canonical Allele Identifier: CA351807618

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 660358
• ClinVar RCV Id: RCV000817536
• dbSNP Id: rs1575157609
• MyVariant Identifiers: chr3:g.30713348T>C (hg19) ; chr3:g.30671856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671856T>C , CM000665.2:g.30671856T>C	GRCh38
NC_000003.11:g.30713348T>C , CM000665.1:g.30713348T>C	GRCh37
NC_000003.10:g.30688352T>C	NCBI36
NG_007490.1:g.70355T>C , LRG_779:g.70355T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.673T>C MANE Select	ENSP00000295754.5:p.Ser225Pro
ENST00000672866.1:n.2269T>C
ENST00000295754.9:c.673T>C	ENSP00000295754.5:p.Ser225Pro
ENST00000359013.4:c.748T>C	ENSP00000351905.4:p.Ser250Pro
NM_001024847.2:c.748T>C , LRG_779t1:c.748T>C	NP_001020018.1:p.Ser250Pro
NM_003242.5:c.673T>C	NP_003233.4:p.Ser225Pro
XM_011534043.1:c.700T>C	XP_011532345.1:p.Ser234Pro
XM_011534044.1:c.625T>C	XP_011532346.1:p.Ser209Pro
XM_011534045.1:c.568T>C	XP_011532347.1:p.Ser190Pro
XM_011534043.2:c.700T>C	XP_011532345.1:p.Ser234Pro
XM_011534045.3:c.568T>C	XP_011532347.1:p.Ser190Pro
XM_017007106.1:c.568T>C	XP_016862595.1:p.Ser190Pro
NM_003242.6:c.673T>C MANE Select	NP_003233.4:p.Ser225Pro