Canonical Allele Identifier: CA1354848136
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1698144889

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30616950T>C , CM000665.2:g.30616950T>C GRCh38
NC_000003.11:g.30658442T>C , CM000665.1:g.30658442T>C GRCh37
NC_000003.10:g.30633446T>C NCBI36
NG_007490.1:g.15449T>C , LRG_779:g.15449T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+9973T>C MANE Select ENSP00000295754.5:n.94+9973T>C
ENST00000673250.1:n.143+2244T>C
ENST00000295754.9:c.94+9973T>C ENSP00000295754.5:n.94+9973T>C
ENST00000359013.4:c.95-6249T>C ENSP00000351905.4:n.95-6249T>C
NM_001024847.2:c.95-6249T>C , LRG_779t1:c.95-6249T>C NP_001020018.1:n.95-6249T>C
NM_003242.5:c.94+9973T>C NP_003233.4:n.94+9973T>C
XM_011534043.1:c.46+2244T>C XP_011532345.1:n.46+2244T>C
XM_011534044.1:c.46+2244T>C XP_011532346.1:n.46+2244T>C
XM_011534045.1:c.-12+10357T>C XP_011532347.1:n.-12+10357T>C
XM_011534043.2:c.46+2244T>C XP_011532345.1:n.46+2244T>C
XM_011534045.3:c.-12+10357T>C XP_011532347.1:n.-12+10357T>C
NM_003242.6:c.94+9973T>C MANE Select NP_003233.4:n.94+9973T>C