Canonical Allele Identifier: CA433058735
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125434507
MyVariant Identifiers: chr3:g.30713494A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672002A>T , CM000665.2:g.30672002A>T GRCh38
NC_000003.11:g.30713494A>T , CM000665.1:g.30713494A>T GRCh37
NC_000003.10:g.30688498A>T NCBI36
NG_007490.1:g.70501A>T , LRG_779:g.70501A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.819A>T MANE Select ENSP00000295754.5:p.Thr273=
ENST00000672866.1:n.2415A>T
ENST00000295754.9:c.819A>T ENSP00000295754.5:p.Thr273=
ENST00000359013.4:c.894A>T ENSP00000351905.4:p.Thr298=
NM_001024847.2:c.894A>T , LRG_779t1:c.894A>T NP_001020018.1:p.Thr298=
NM_003242.5:c.819A>T NP_003233.4:p.Thr273=
XM_011534043.1:c.846A>T XP_011532345.1:p.Thr282=
XM_011534044.1:c.771A>T XP_011532346.1:p.Thr257=
XM_011534045.1:c.714A>T XP_011532347.1:p.Thr238=
XM_011534043.2:c.846A>T XP_011532345.1:p.Thr282=
XM_011534045.3:c.714A>T XP_011532347.1:p.Thr238=
XM_017007106.1:c.714A>T XP_016862595.1:p.Thr238=
NM_003242.6:c.819A>T MANE Select NP_003233.4:p.Thr273=