Canonical Allele Identifier: CA1354863157
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1698838656
gnomAD v3: 3-30649424-G-A
gnomAD v4: 3-30649424-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30649424G>A , CM000665.2:g.30649424G>A GRCh38
NC_000003.11:g.30690916G>A , CM000665.1:g.30690916G>A GRCh37
NC_000003.10:g.30665920G>A NCBI36
NG_007490.1:g.47923G>A , LRG_779:g.47923G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.264-846G>A MANE Select ENSP00000295754.5:n.264-846G>A
ENST00000672866.1:n.1860-846G>A
ENST00000673250.1:n.388-846G>A
ENST00000295754.9:c.264-846G>A ENSP00000295754.5:n.264-846G>A
ENST00000359013.4:c.339-846G>A ENSP00000351905.4:n.339-846G>A
NM_001024847.2:c.339-846G>A , LRG_779t1:c.339-846G>A NP_001020018.1:n.339-846G>A
NM_003242.5:c.264-846G>A NP_003233.4:n.264-846G>A
XM_011534043.1:c.291-846G>A XP_011532345.1:n.291-846G>A
XM_011534044.1:c.216-846G>A XP_011532346.1:n.216-846G>A
XM_011534045.1:c.159-846G>A XP_011532347.1:n.159-846G>A
XM_011534043.2:c.291-846G>A XP_011532345.1:n.291-846G>A
XM_011534045.3:c.159-846G>A XP_011532347.1:n.159-846G>A
XM_017007106.1:c.159-846G>A XP_016862595.1:n.159-846G>A
NM_003242.6:c.264-846G>A MANE Select NP_003233.4:n.264-846G>A