Canonical Allele Identifier: CA1046440265

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1698608389
• gnomAD v3: 3-30639649-A-G
• gnomAD v4: 3-30639649-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30639649A>G , CM000665.2:g.30639649A>G	GRCh38
NC_000003.11:g.30681141A>G , CM000665.1:g.30681141A>G	GRCh37
NC_000003.10:g.30656145A>G	NCBI36
NG_007490.1:g.38148A>G , LRG_779:g.38148A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.95-5098A>G MANE Select	ENSP00000295754.5:n.95-5098A>G
ENST00000672866.1:n.1691-5098A>G
ENST00000673250.1:n.219-5098A>G
ENST00000295754.9:c.95-5098A>G	ENSP00000295754.5:n.95-5098A>G
ENST00000359013.4:c.170-5098A>G	ENSP00000351905.4:n.170-5098A>G
NM_001024847.2:c.170-5098A>G , LRG_779t1:c.170-5098A>G	NP_001020018.1:n.170-5098A>G
NM_003242.5:c.95-5098A>G	NP_003233.4:n.95-5098A>G
XM_011534043.1:c.122-5098A>G	XP_011532345.1:n.122-5098A>G
XM_011534044.1:c.47-5098A>G	XP_011532346.1:n.47-5098A>G
XM_011534045.1:c.-11-5098A>G	XP_011532347.1:n.-11-5098A>G
XM_011534043.2:c.122-5098A>G	XP_011532345.1:n.122-5098A>G
XM_011534045.3:c.-11-5098A>G	XP_011532347.1:n.-11-5098A>G
XM_017007106.1:c.-11-5098A>G	XP_016862595.1:n.-11-5098A>G
NM_003242.6:c.95-5098A>G MANE Select	NP_003233.4:n.95-5098A>G