Canonical Allele Identifier: CA1046450781

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1698146328
• gnomAD v3: 3-30617070-C-A
• gnomAD v4: 3-30617070-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30617070C>A , CM000665.2:g.30617070C>A	GRCh38
NC_000003.11:g.30658562C>A , CM000665.1:g.30658562C>A	GRCh37
NC_000003.10:g.30633566C>A	NCBI36
NG_007490.1:g.15569C>A , LRG_779:g.15569C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.94+10093C>A MANE Select	ENSP00000295754.5:n.94+10093C>A
ENST00000673250.1:n.143+2364C>A
ENST00000295754.9:c.94+10093C>A	ENSP00000295754.5:n.94+10093C>A
ENST00000359013.4:c.95-6129C>A	ENSP00000351905.4:n.95-6129C>A
NM_001024847.2:c.95-6129C>A , LRG_779t1:c.95-6129C>A	NP_001020018.1:n.95-6129C>A
NM_003242.5:c.94+10093C>A	NP_003233.4:n.94+10093C>A
XM_011534043.1:c.46+2364C>A	XP_011532345.1:n.46+2364C>A
XM_011534044.1:c.46+2364C>A	XP_011532346.1:n.46+2364C>A
XM_011534045.1:c.-12+10477C>A	XP_011532347.1:n.-12+10477C>A
XM_011534043.2:c.46+2364C>A	XP_011532345.1:n.46+2364C>A
XM_011534045.3:c.-12+10477C>A	XP_011532347.1:n.-12+10477C>A
NM_003242.6:c.94+10093C>A MANE Select	NP_003233.4:n.94+10093C>A