Canonical Allele Identifier: CA541685321

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1454453175
• gnomAD v2: 3-30715504-C-T
• gnomAD v3: 3-30674012-C-T
• gnomAD v4: 3-30674012-C-T
• MyVariant Identifiers: chr3:g.30715504C>T (hg19) ; chr3:g.30674012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674012C>T , CM000665.2:g.30674012C>T	GRCh38
NC_000003.11:g.30715504C>T , CM000665.1:g.30715504C>T	GRCh37
NC_000003.10:g.30690508C>T	NCBI36
NG_007490.1:g.72511C>T , LRG_779:g.72511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1255-93C>T MANE Select	ENSP00000295754.5:n.1255-93C>T
ENST00000672866.1:n.2851-93C>T
ENST00000673203.1:n.40C>T
ENST00000295754.9:c.1255-93C>T	ENSP00000295754.5:n.1255-93C>T
ENST00000359013.4:c.1330-93C>T	ENSP00000351905.4:n.1330-93C>T
NM_001024847.2:c.1330-93C>T , LRG_779t1:c.1330-93C>T	NP_001020018.1:n.1330-93C>T
NM_003242.5:c.1255-93C>T	NP_003233.4:n.1255-93C>T
XM_011534043.1:c.1282-93C>T	XP_011532345.1:n.1282-93C>T
XM_011534044.1:c.1207-93C>T	XP_011532346.1:n.1207-93C>T
XM_011534045.1:c.1150-93C>T	XP_011532347.1:n.1150-93C>T
XM_011534043.2:c.1282-93C>T	XP_011532345.1:n.1282-93C>T
XM_011534045.3:c.1150-93C>T	XP_011532347.1:n.1150-93C>T
XM_017007106.1:c.1150-93C>T	XP_016862595.1:n.1150-93C>T
NM_003242.6:c.1255-93C>T MANE Select	NP_003233.4:n.1255-93C>T