Canonical Allele Identifier: CA432917716
Gene: TGFBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.30715647T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674155T>C , CM000665.2:g.30674155T>C GRCh38
NC_000003.11:g.30715647T>C , CM000665.1:g.30715647T>C GRCh37
NC_000003.10:g.30690651T>C NCBI36
NG_007490.1:g.72654T>C , LRG_779:g.72654T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1305T>C MANE Select ENSP00000295754.5:p.Asn435=
ENST00000672866.1:n.2901T>C
ENST00000673203.1:n.183T>C
ENST00000295754.9:c.1305T>C ENSP00000295754.5:p.Asn435=
ENST00000359013.4:c.1380T>C ENSP00000351905.4:p.Asn460=
NM_001024847.2:c.1380T>C , LRG_779t1:c.1380T>C NP_001020018.1:p.Asn460=
NM_003242.5:c.1305T>C NP_003233.4:p.Asn435=
XM_011534043.1:c.1332T>C XP_011532345.1:p.Asn444=
XM_011534044.1:c.1257T>C XP_011532346.1:p.Asn419=
XM_011534045.1:c.1200T>C XP_011532347.1:p.Asn400=
XM_011534043.2:c.1332T>C XP_011532345.1:p.Asn444=
XM_011534045.3:c.1200T>C XP_011532347.1:p.Asn400=
XM_017007106.1:c.1200T>C XP_016862595.1:p.Asn400=
NM_003242.6:c.1305T>C MANE Select NP_003233.4:p.Asn435=