Canonical Allele Identifier: CA1046445541

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1699288080
• gnomAD v3: 3-30668812-C-A
• gnomAD v4: 3-30668812-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30668812C>A , CM000665.2:g.30668812C>A	GRCh38
NC_000003.11:g.30710304C>A , CM000665.1:g.30710304C>A	GRCh37
NC_000003.10:g.30685308C>A	NCBI36
NG_007490.1:g.67311C>A , LRG_779:g.67311C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.455-2826C>A MANE Select	ENSP00000295754.5:n.455-2826C>A
ENST00000672866.1:n.2051-2826C>A
ENST00000295754.9:c.455-2826C>A	ENSP00000295754.5:n.455-2826C>A
ENST00000359013.4:c.530-2826C>A	ENSP00000351905.4:n.530-2826C>A
NM_001024847.2:c.530-2826C>A , LRG_779t1:c.530-2826C>A	NP_001020018.1:n.530-2826C>A
NM_003242.5:c.455-2826C>A	NP_003233.4:n.455-2826C>A
XM_011534043.1:c.482-2826C>A	XP_011532345.1:n.482-2826C>A
XM_011534044.1:c.407-2826C>A	XP_011532346.1:n.407-2826C>A
XM_011534045.1:c.350-2826C>A	XP_011532347.1:n.350-2826C>A
XM_011534043.2:c.482-2826C>A	XP_011532345.1:n.482-2826C>A
XM_011534045.3:c.350-2826C>A	XP_011532347.1:n.350-2826C>A
XM_017007106.1:c.350-2826C>A	XP_016862595.1:n.350-2826C>A
NM_003242.6:c.455-2826C>A MANE Select	NP_003233.4:n.455-2826C>A