Canonical Allele Identifier: CA72289946
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 901873
dbSNP Id: rs1040386724
gnomAD v2: 3-30648254-T-G
gnomAD v3: 3-30606762-T-G
gnomAD v4: 3-30606762-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606762T>G , CM000665.2:g.30606762T>G GRCh38
NC_000003.11:g.30648254T>G , CM000665.1:g.30648254T>G GRCh37
NC_000003.10:g.30623258T>G NCBI36
NG_007490.1:g.5261T>G , LRG_779:g.5261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-122T>G MANE Select ENSP00000295754.5:n.-122T>G
ENST00000295754.9:c.-122T>G ENSP00000295754.5:n.-122T>G
ENST00000359013.4:c.-122T>G ENSP00000351905.4:n.-122T>G
NM_001024847.2:c.-122T>G , LRG_779t1:c.-122T>G NP_001020018.1:n.-122T>G
NM_003242.5:c.-122T>G NP_003233.4:n.-122T>G
XM_011534045.1:c.-12+169T>G XP_011532347.1:n.-12+169T>G
XM_011534045.3:c.-12+169T>G XP_011532347.1:n.-12+169T>G
NM_003242.6:c.-122T>G MANE Select NP_003233.4:n.-122T>G