Canonical Allele Identifier: CA71509150

Gene: TGFBR2

Linked Data

• dbSNP Id: rs550921113
• gnomAD v3: 3-30656323-G-A
• gnomAD v4: 3-30656323-G-A
• MyVariant Identifiers: chr3:g.30697815G>A (hg19) ; chr3:g.30656323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30656323G>A , CM000665.2:g.30656323G>A	GRCh38
NC_000003.11:g.30697815G>A , CM000665.1:g.30697815G>A	GRCh37
NC_000003.10:g.30672819G>A	NCBI36
NG_007490.1:g.54822G>A , LRG_779:g.54822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.454+5863G>A MANE Select	ENSP00000295754.5:n.454+5863G>A
ENST00000672866.1:n.2050+5863G>A
ENST00000295754.9:c.454+5863G>A	ENSP00000295754.5:n.454+5863G>A
ENST00000359013.4:c.529+5863G>A	ENSP00000351905.4:n.529+5863G>A
NM_001024847.2:c.529+5863G>A , LRG_779t1:c.529+5863G>A	NP_001020018.1:n.529+5863G>A
NM_003242.5:c.454+5863G>A	NP_003233.4:n.454+5863G>A
XM_011534043.1:c.481+5863G>A	XP_011532345.1:n.481+5863G>A
XM_011534044.1:c.406+5863G>A	XP_011532346.1:n.406+5863G>A
XM_011534045.1:c.349+5863G>A	XP_011532347.1:n.349+5863G>A
XR_940692.1:n.2842G>A
XM_011534043.2:c.481+5863G>A	XP_011532345.1:n.481+5863G>A
XM_011534045.3:c.349+5863G>A	XP_011532347.1:n.349+5863G>A
XM_017007106.1:c.349+5863G>A	XP_016862595.1:n.349+5863G>A
XR_001740630.1:n.2344G>A
XR_001740631.1:n.647-1384G>A
NM_003242.6:c.454+5863G>A MANE Select	NP_003233.4:n.454+5863G>A