Canonical Allele Identifier: CA047925
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs778651386
gnomAD v2: 3-30648377-T-A
gnomAD v4: 3-30606885-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606885T>A , CM000665.2:g.30606885T>A GRCh38
NC_000003.11:g.30648377T>A , CM000665.1:g.30648377T>A GRCh37
NC_000003.10:g.30623381T>A NCBI36
NG_007490.1:g.5384T>A , LRG_779:g.5384T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.2T>A MANE Select ENSP00000295754.5:p.Met1Lys
ENST00000295754.9:c.2T>A ENSP00000295754.5:p.Met1Lys
ENST00000359013.4:c.2T>A ENSP00000351905.4:p.Met1Lys
NM_001024847.2:c.2T>A , LRG_779t1:c.2T>A NP_001020018.1:p.Met1Lys
NM_003242.5:c.2T>A NP_003233.4:p.Met1Lys
XM_011534045.1:c.-12+292T>A XP_011532347.1:n.-12+292T>A
XM_011534045.3:c.-12+292T>A XP_011532347.1:n.-12+292T>A
NM_003242.6:c.2T>A MANE Select NP_003233.4:p.Met1Lys