Canonical Allele Identifier: CA71547245

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 836266
• ClinVar RCV Id: RCV001037348
• dbSNP Id: rs1035228561
• gnomAD v2: 3-30733003-G-T
• gnomAD v3: 3-30691511-G-T
• gnomAD v4: 3-30691511-G-T
• MyVariant Identifiers: chr3:g.30733003G>T (hg19) ; chr3:g.30691511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691511G>T , CM000665.2:g.30691511G>T	GRCh38
NC_000003.11:g.30733003G>T , CM000665.1:g.30733003G>T	GRCh37
NC_000003.10:g.30708007G>T	NCBI36
NG_007490.1:g.90010G>T , LRG_779:g.90010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1616G>T MANE Select	ENSP00000295754.5:p.Ser539Ile
ENST00000672050.1:n.500G>T
ENST00000672866.1:n.3212G>T
ENST00000673203.1:n.494G>T
ENST00000295754.9:c.1616G>T	ENSP00000295754.5:p.Ser539Ile
ENST00000359013.4:c.1691G>T	ENSP00000351905.4:p.Ser564Ile
NM_001024847.2:c.1691G>T , LRG_779t1:c.1691G>T	NP_001020018.1:p.Ser564Ile
NM_003242.5:c.1616G>T	NP_003233.4:p.Ser539Ile
XM_011534043.1:c.1643G>T	XP_011532345.1:p.Ser548Ile
XM_011534044.1:c.1568G>T	XP_011532346.1:p.Ser523Ile
XM_011534045.1:c.1511G>T	XP_011532347.1:p.Ser504Ile
XM_011534043.2:c.1643G>T	XP_011532345.1:p.Ser548Ile
XM_011534045.3:c.1511G>T	XP_011532347.1:p.Ser504Ile
XM_017007106.1:c.1511G>T	XP_016862595.1:p.Ser504Ile
NM_003242.6:c.1616G>T MANE Select	NP_003233.4:p.Ser539Ile