Canonical Allele Identifier: CA433058890
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1699350725
MyVariant Identifiers: chr3:g.30713587A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672095A>C , CM000665.2:g.30672095A>C GRCh38
NC_000003.11:g.30713587A>C , CM000665.1:g.30713587A>C GRCh37
NC_000003.10:g.30688591A>C NCBI36
NG_007490.1:g.70594A>C , LRG_779:g.70594A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.912A>C MANE Select ENSP00000295754.5:p.Ile304=
ENST00000672866.1:n.2508A>C
ENST00000295754.9:c.912A>C ENSP00000295754.5:p.Ile304=
ENST00000359013.4:c.987A>C ENSP00000351905.4:p.Ile329=
NM_001024847.2:c.987A>C , LRG_779t1:c.987A>C NP_001020018.1:p.Ile329=
NM_003242.5:c.912A>C NP_003233.4:p.Ile304=
XM_011534043.1:c.939A>C XP_011532345.1:p.Ile313=
XM_011534044.1:c.864A>C XP_011532346.1:p.Ile288=
XM_011534045.1:c.807A>C XP_011532347.1:p.Ile269=
XM_011534043.2:c.939A>C XP_011532345.1:p.Ile313=
XM_011534045.3:c.807A>C XP_011532347.1:p.Ile269=
XM_017007106.1:c.807A>C XP_016862595.1:p.Ile269=
NM_003242.6:c.912A>C MANE Select NP_003233.4:p.Ile304=