Canonical Allele Identifier: CA432917765

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1471090070
• gnomAD v3: 3-30674242-G-C
• gnomAD v4: 3-30674242-G-C
• MyVariant Identifiers: chr3:g.30715734G>C (hg19) ; chr3:g.30674242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674242G>C , CM000665.2:g.30674242G>C	GRCh38
NC_000003.11:g.30715734G>C , CM000665.1:g.30715734G>C	GRCh37
NC_000003.10:g.30690738G>C	NCBI36
NG_007490.1:g.72741G>C , LRG_779:g.72741G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1392G>C MANE Select	ENSP00000295754.5:p.Val464=
ENST00000672866.1:n.2988G>C
ENST00000673203.1:n.270G>C
ENST00000295754.9:c.1392G>C	ENSP00000295754.5:p.Val464=
ENST00000359013.4:c.1467G>C	ENSP00000351905.4:p.Val489=
NM_001024847.2:c.1467G>C , LRG_779t1:c.1467G>C	NP_001020018.1:p.Val489=
NM_003242.5:c.1392G>C	NP_003233.4:p.Val464=
XM_011534043.1:c.1419G>C	XP_011532345.1:p.Val473=
XM_011534044.1:c.1344G>C	XP_011532346.1:p.Val448=
XM_011534045.1:c.1287G>C	XP_011532347.1:p.Val429=
XM_011534043.2:c.1419G>C	XP_011532345.1:p.Val473=
XM_011534045.3:c.1287G>C	XP_011532347.1:p.Val429=
XM_017007106.1:c.1287G>C	XP_016862595.1:p.Val429=
NM_003242.6:c.1392G>C MANE Select	NP_003233.4:p.Val464=