Canonical Allele Identifier: CA906183595
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1265163967
gnomAD v3: 3-30689307-A-T
gnomAD v4: 3-30689307-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30689307A>T , CM000665.2:g.30689307A>T GRCh38
NC_000003.11:g.30730799A>T , CM000665.1:g.30730799A>T GRCh37
NC_000003.10:g.30705803A>T NCBI36
NG_007490.1:g.87806A>T , LRG_779:g.87806A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1524+796A>T MANE Select ENSP00000295754.5:n.1524+796A>T
ENST00000672050.1:n.408+796A>T
ENST00000672866.1:n.3120+796A>T
ENST00000673203.1:n.402+796A>T
ENST00000295754.9:c.1524+796A>T ENSP00000295754.5:n.1524+796A>T
ENST00000359013.4:c.1599+796A>T ENSP00000351905.4:n.1599+796A>T
NM_001024847.2:c.1599+796A>T , LRG_779t1:c.1599+796A>T NP_001020018.1:n.1599+796A>T
NM_003242.5:c.1524+796A>T NP_003233.4:n.1524+796A>T
XM_011534043.1:c.1551+796A>T XP_011532345.1:n.1551+796A>T
XM_011534044.1:c.1476+796A>T XP_011532346.1:n.1476+796A>T
XM_011534045.1:c.1419+796A>T XP_011532347.1:n.1419+796A>T
XM_011534043.2:c.1551+796A>T XP_011532345.1:n.1551+796A>T
XM_011534045.3:c.1419+796A>T XP_011532347.1:n.1419+796A>T
XM_017007106.1:c.1419+796A>T XP_016862595.1:n.1419+796A>T
NM_003242.6:c.1524+796A>T MANE Select NP_003233.4:n.1524+796A>T