Canonical Allele Identifier: CA047604

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 378728
• ClinVar RCV Id: RCV000435039 ; RCV002061543 ; RCV002502483
• dbSNP Id: rs34771516
• ExAC: 3:30686424 A / C
• gnomAD v2: 3-30686424-A-C
• gnomAD v3: 3-30644932-A-C
• gnomAD v4: 3-30644932-A-C
• MyVariant Identifiers: chr3:g.30686424A>C (hg19) ; chr3:g.30644932A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30644932A>C , CM000665.2:g.30644932A>C	GRCh38
NC_000003.11:g.30686424A>C , CM000665.1:g.30686424A>C	GRCh37
NC_000003.10:g.30661428A>C	NCBI36
NG_007490.1:g.43431A>C , LRG_779:g.43431A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.263+17A>C MANE Select	ENSP00000295754.5:n.263+17A>C
ENST00000672866.1:n.1859+17A>C
ENST00000673250.1:n.387+17A>C
ENST00000295754.9:c.263+17A>C	ENSP00000295754.5:n.263+17A>C
ENST00000359013.4:c.338+17A>C	ENSP00000351905.4:n.338+17A>C
NM_001024847.2:c.338+17A>C , LRG_779t1:c.338+17A>C	NP_001020018.1:n.338+17A>C
NM_003242.5:c.263+17A>C	NP_003233.4:n.263+17A>C
XM_011534043.1:c.290+17A>C	XP_011532345.1:n.290+17A>C
XM_011534044.1:c.215+17A>C	XP_011532346.1:n.215+17A>C
XM_011534045.1:c.158+17A>C	XP_011532347.1:n.158+17A>C
XM_011534043.2:c.290+17A>C	XP_011532345.1:n.290+17A>C
XM_011534045.3:c.158+17A>C	XP_011532347.1:n.158+17A>C
XM_017007106.1:c.158+17A>C	XP_016862595.1:n.158+17A>C
NM_003242.6:c.263+17A>C MANE Select	NP_003233.4:n.263+17A>C