Canonical Allele Identifier: CA1354866305
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1699002793

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30656504T>C , CM000665.2:g.30656504T>C GRCh38
NC_000003.11:g.30697996T>C , CM000665.1:g.30697996T>C GRCh37
NC_000003.10:g.30673000T>C NCBI36
NG_007490.1:g.55003T>C , LRG_779:g.55003T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.454+6044T>C MANE Select ENSP00000295754.5:n.454+6044T>C
ENST00000672866.1:n.2050+6044T>C
ENST00000295754.9:c.454+6044T>C ENSP00000295754.5:n.454+6044T>C
ENST00000359013.4:c.529+6044T>C ENSP00000351905.4:n.529+6044T>C
NM_001024847.2:c.529+6044T>C , LRG_779t1:c.529+6044T>C NP_001020018.1:n.529+6044T>C
NM_003242.5:c.454+6044T>C NP_003233.4:n.454+6044T>C
XM_011534043.1:c.481+6044T>C XP_011532345.1:n.481+6044T>C
XM_011534044.1:c.406+6044T>C XP_011532346.1:n.406+6044T>C
XM_011534045.1:c.349+6044T>C XP_011532347.1:n.349+6044T>C
XR_940692.1:n.3023T>C
XM_011534043.2:c.481+6044T>C XP_011532345.1:n.481+6044T>C
XM_011534045.3:c.349+6044T>C XP_011532347.1:n.349+6044T>C
XM_017007106.1:c.349+6044T>C XP_016862595.1:n.349+6044T>C
XR_001740630.1:n.2525T>C
XR_001740631.1:n.647-1203T>C
NM_003242.6:c.454+6044T>C MANE Select NP_003233.4:n.454+6044T>C