Canonical Allele Identifier: CA2702374033
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125439520

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674262C>A , CM000665.2:g.30674262C>A GRCh38
NC_000003.11:g.30715754C>A , CM000665.1:g.30715754C>A GRCh37
NC_000003.10:g.30690758C>A NCBI36
NG_007490.1:g.72761C>A , LRG_779:g.72761C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1396+16C>A MANE Select ENSP00000295754.5:n.1396+16C>A
ENST00000672866.1:n.2992+16C>A
ENST00000673203.1:n.274+16C>A
ENST00000295754.9:c.1396+16C>A ENSP00000295754.5:n.1396+16C>A
ENST00000359013.4:c.1471+16C>A ENSP00000351905.4:n.1471+16C>A
NM_001024847.2:c.1471+16C>A , LRG_779t1:c.1471+16C>A NP_001020018.1:n.1471+16C>A
NM_003242.5:c.1396+16C>A NP_003233.4:n.1396+16C>A
XM_011534043.1:c.1423+16C>A XP_011532345.1:n.1423+16C>A
XM_011534044.1:c.1348+16C>A XP_011532346.1:n.1348+16C>A
XM_011534045.1:c.1291+16C>A XP_011532347.1:n.1291+16C>A
XM_011534043.2:c.1423+16C>A XP_011532345.1:n.1423+16C>A
XM_011534045.3:c.1291+16C>A XP_011532347.1:n.1291+16C>A
XM_017007106.1:c.1291+16C>A XP_016862595.1:n.1291+16C>A
NM_003242.6:c.1396+16C>A MANE Select NP_003233.4:n.1396+16C>A