Canonical Allele Identifier: CA050077
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 922243
dbSNP Id: rs780267559
gnomAD v2: 3-30648383-G-A
gnomAD v4: 3-30606891-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606891G>A , CM000665.2:g.30606891G>A GRCh38
NC_000003.11:g.30648383G>A , CM000665.1:g.30648383G>A GRCh37
NC_000003.10:g.30623387G>A NCBI36
NG_007490.1:g.5390G>A , LRG_779:g.5390G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.8G>A MANE Select ENSP00000295754.5:p.Arg3Gln
ENST00000295754.9:c.8G>A ENSP00000295754.5:p.Arg3Gln
ENST00000359013.4:c.8G>A ENSP00000351905.4:p.Arg3Gln
NM_001024847.2:c.8G>A , LRG_779t1:c.8G>A NP_001020018.1:p.Arg3Gln
NM_003242.5:c.8G>A NP_003233.4:p.Arg3Gln
XM_011534045.1:c.-12+298G>A XP_011532347.1:n.-12+298G>A
XM_011534045.3:c.-12+298G>A XP_011532347.1:n.-12+298G>A
NM_003242.6:c.8G>A MANE Select NP_003233.4:p.Arg3Gln