Canonical Allele Identifier: CA1046455940

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699706861
• gnomAD v3: 3-30691416-A-G
• gnomAD v4: 3-30691416-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691416A>G , CM000665.2:g.30691416A>G	GRCh38
NC_000003.11:g.30732908A>G , CM000665.1:g.30732908A>G	GRCh37
NC_000003.10:g.30707912A>G	NCBI36
NG_007490.1:g.89915A>G , LRG_779:g.89915A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1525-4A>G MANE Select	ENSP00000295754.5:n.1525-4A>G
ENST00000672050.1:n.409-4A>G
ENST00000672866.1:n.3121-4A>G
ENST00000673203.1:n.403-4A>G
ENST00000295754.9:c.1525-4A>G	ENSP00000295754.5:n.1525-4A>G
ENST00000359013.4:c.1600-4A>G	ENSP00000351905.4:n.1600-4A>G
NM_001024847.2:c.1600-4A>G , LRG_779t1:c.1600-4A>G	NP_001020018.1:n.1600-4A>G
NM_003242.5:c.1525-4A>G	NP_003233.4:n.1525-4A>G
XM_011534043.1:c.1552-4A>G	XP_011532345.1:n.1552-4A>G
XM_011534044.1:c.1477-4A>G	XP_011532346.1:n.1477-4A>G
XM_011534045.1:c.1420-4A>G	XP_011532347.1:n.1420-4A>G
XM_011534043.2:c.1552-4A>G	XP_011532345.1:n.1552-4A>G
XM_011534045.3:c.1420-4A>G	XP_011532347.1:n.1420-4A>G
XM_017007106.1:c.1420-4A>G	XP_016862595.1:n.1420-4A>G
NM_003242.6:c.1525-4A>G MANE Select	NP_003233.4:n.1525-4A>G