Canonical Allele Identifier: CA050096
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072678
ClinVar RCV Id: RCV004013700
dbSNP Id: rs780267559
gnomAD v2: 3-30648383-G-C
gnomAD v4: 3-30606891-G-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.8G>C MANE Select ENSP00000295754.5:p.Arg3Pro
ENST00000295754.9:c.8G>C ENSP00000295754.5:p.Arg3Pro
ENST00000359013.4:c.8G>C ENSP00000351905.4:p.Arg3Pro
NM_001024847.2:c.8G>C , LRG_779t1:c.8G>C NP_001020018.1:p.Arg3Pro
NM_003242.5:c.8G>C NP_003233.4:p.Arg3Pro
XM_011534045.1:c.-12+298G>C XP_011532347.1:n.-12+298G>C
XM_011534045.3:c.-12+298G>C XP_011532347.1:n.-12+298G>C
NM_003242.6:c.8G>C MANE Select NP_003233.4:p.Arg3Pro