Canonical Allele Identifier: CA10616073
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 344655
dbSNP Id: rs753369354
gnomAD v2: 3-30648358-C-A
gnomAD v3: 3-30606866-C-A
gnomAD v4: 3-30606866-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606866C>A , CM000665.2:g.30606866C>A GRCh38
NC_000003.11:g.30648358C>A , CM000665.1:g.30648358C>A GRCh37
NC_000003.10:g.30623362C>A NCBI36
NG_007490.1:g.5365C>A , LRG_779:g.5365C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-18C>A MANE Select ENSP00000295754.5:n.-18C>A
ENST00000295754.9:c.-18C>A ENSP00000295754.5:n.-18C>A
ENST00000359013.4:c.-18C>A ENSP00000351905.4:n.-18C>A
NM_001024847.2:c.-18C>A , LRG_779t1:c.-18C>A NP_001020018.1:n.-18C>A
NM_003242.5:c.-18C>A NP_003233.4:n.-18C>A
XM_011534045.1:c.-12+273C>A XP_011532347.1:n.-12+273C>A
XM_011534045.3:c.-12+273C>A XP_011532347.1:n.-12+273C>A
NM_003242.6:c.-18C>A MANE Select NP_003233.4:n.-18C>A