Canonical Allele Identifier: CA432917969
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs140662877
MyVariant Identifiers: chr3:g.30732935G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691443G>C , CM000665.2:g.30691443G>C GRCh38
NC_000003.11:g.30732935G>C , CM000665.1:g.30732935G>C GRCh37
NC_000003.10:g.30707939G>C NCBI36
NG_007490.1:g.89942G>C , LRG_779:g.89942G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1548G>C MANE Select ENSP00000295754.5:p.Thr516=
ENST00000672050.1:n.432G>C
ENST00000672866.1:n.3144G>C
ENST00000673203.1:n.426G>C
ENST00000295754.9:c.1548G>C ENSP00000295754.5:p.Thr516=
ENST00000359013.4:c.1623G>C ENSP00000351905.4:p.Thr541=
NM_001024847.2:c.1623G>C , LRG_779t1:c.1623G>C NP_001020018.1:p.Thr541=
NM_003242.5:c.1548G>C NP_003233.4:p.Thr516=
XM_011534043.1:c.1575G>C XP_011532345.1:p.Thr525=
XM_011534044.1:c.1500G>C XP_011532346.1:p.Thr500=
XM_011534045.1:c.1443G>C XP_011532347.1:p.Thr481=
XM_011534043.2:c.1575G>C XP_011532345.1:p.Thr525=
XM_011534045.3:c.1443G>C XP_011532347.1:p.Thr481=
XM_017007106.1:c.1443G>C XP_016862595.1:p.Thr481=
NM_003242.6:c.1548G>C MANE Select NP_003233.4:p.Thr516=