Canonical Allele Identifier: CA433058913
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs55751315
MyVariant Identifiers: chr3:g.30713612C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672120C>A , CM000665.2:g.30672120C>A GRCh38
NC_000003.11:g.30713612C>A , CM000665.1:g.30713612C>A GRCh37
NC_000003.10:g.30688616C>A NCBI36
NG_007490.1:g.70619C>A , LRG_779:g.70619C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.937C>A MANE Select ENSP00000295754.5:p.Arg313=
ENST00000672866.1:n.2533C>A
ENST00000295754.9:c.937C>A ENSP00000295754.5:p.Arg313=
ENST00000359013.4:c.1012C>A ENSP00000351905.4:p.Arg338=
NM_001024847.2:c.1012C>A , LRG_779t1:c.1012C>A NP_001020018.1:p.Arg338=
NM_003242.5:c.937C>A NP_003233.4:p.Arg313=
XM_011534043.1:c.964C>A XP_011532345.1:p.Arg322=
XM_011534044.1:c.889C>A XP_011532346.1:p.Arg297=
XM_011534045.1:c.832C>A XP_011532347.1:p.Arg278=
XM_011534043.2:c.964C>A XP_011532345.1:p.Arg322=
XM_011534045.3:c.832C>A XP_011532347.1:p.Arg278=
XM_017007106.1:c.832C>A XP_016862595.1:p.Arg278=
NM_003242.6:c.937C>A MANE Select NP_003233.4:p.Arg313=