Canonical Allele Identifier: CA906116436

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1390687518
• gnomAD v3: 3-30656472-A-G
• gnomAD v4: 3-30656472-A-G
• MyVariant Identifiers: chr3:g.30697964A>G (hg19) ; chr3:g.30656472A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30656472A>G , CM000665.2:g.30656472A>G	GRCh38
NC_000003.11:g.30697964A>G , CM000665.1:g.30697964A>G	GRCh37
NC_000003.10:g.30672968A>G	NCBI36
NG_007490.1:g.54971A>G , LRG_779:g.54971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.454+6012A>G MANE Select	ENSP00000295754.5:n.454+6012A>G
ENST00000672866.1:n.2050+6012A>G
ENST00000295754.9:c.454+6012A>G	ENSP00000295754.5:n.454+6012A>G
ENST00000359013.4:c.529+6012A>G	ENSP00000351905.4:n.529+6012A>G
NM_001024847.2:c.529+6012A>G , LRG_779t1:c.529+6012A>G	NP_001020018.1:n.529+6012A>G
NM_003242.5:c.454+6012A>G	NP_003233.4:n.454+6012A>G
XM_011534043.1:c.481+6012A>G	XP_011532345.1:n.481+6012A>G
XM_011534044.1:c.406+6012A>G	XP_011532346.1:n.406+6012A>G
XM_011534045.1:c.349+6012A>G	XP_011532347.1:n.349+6012A>G
XR_940692.1:n.2991A>G
XM_011534043.2:c.481+6012A>G	XP_011532345.1:n.481+6012A>G
XM_011534045.3:c.349+6012A>G	XP_011532347.1:n.349+6012A>G
XM_017007106.1:c.349+6012A>G	XP_016862595.1:n.349+6012A>G
XR_001740630.1:n.2493A>G
XR_001740631.1:n.647-1235A>G
NM_003242.6:c.454+6012A>G MANE Select	NP_003233.4:n.454+6012A>G