Canonical Allele Identifier: CA1354880724
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1699674801

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30689307_30689308del , CM000665.2:g.30689307_30689308del GRCh38
NC_000003.11:g.30730799_30730800del , CM000665.1:g.30730799_30730800del GRCh37
NC_000003.10:g.30705803_30705804del NCBI36
NG_007490.1:g.87806_87807del , LRG_779:g.87806_87807del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1524+796_1524+797del MANE Select ENSP00000295754.5:n.1524+796_1524+797del
ENST00000672050.1:n.408+796_408+797del
ENST00000672866.1:n.3120+796_3120+797del
ENST00000673203.1:n.402+796_402+797del
ENST00000295754.9:c.1524+796_1524+797del ENSP00000295754.5:n.1524+796_1524+797del
ENST00000359013.4:c.1599+796_1599+797del ENSP00000351905.4:n.1599+796_1599+797del
NM_001024847.2:c.1599+796_1599+797del , LRG_779t1:c.1599+796_1599+797del NP_001020018.1:n.1599+796_1599+797del
NM_003242.5:c.1524+796_1524+797del NP_003233.4:n.1524+796_1524+797del
XM_011534043.1:c.1551+796_1551+797del XP_011532345.1:n.1551+796_1551+797del
XM_011534044.1:c.1476+796_1476+797del XP_011532346.1:n.1476+796_1476+797del
XM_011534045.1:c.1419+796_1419+797del XP_011532347.1:n.1419+796_1419+797del
XM_011534043.2:c.1551+796_1551+797del XP_011532345.1:n.1551+796_1551+797del
XM_011534045.3:c.1419+796_1419+797del XP_011532347.1:n.1419+796_1419+797del
XM_017007106.1:c.1419+796_1419+797del XP_016862595.1:n.1419+796_1419+797del
NM_003242.6:c.1524+796_1524+797del MANE Select NP_003233.4:n.1524+796_1524+797del