Canonical Allele Identifier: CA1354873255
Community Standard Title: NM_003242.6(TGFBR2):c.1167C= (p.Asn389=)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672350C= , CM000665.2:g.30672350C= GRCh38
NC_000003.11:g.30713842C= , CM000665.1:g.30713842C= GRCh37
NC_000003.10:g.30688846C= NCBI36
NG_007490.1:g.70849C= , LRG_779:g.70849C=

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.1167C= MANE Select NP_003233.4:p.Asn389=
ENST00000295754.10:c.1167C= MANE Select ENSP00000295754.5:p.Asn389=
NM_001024847.2:c.1242C= , LRG_779t1:c.1242C= NP_001020018.1:p.Asn414=
NM_003242.5:c.1167C= NP_003233.4:p.Asn389=
ENST00000295754.9:c.1167C= ENSP00000295754.5:p.Asn389=
ENST00000359013.4:c.1242C= ENSP00000351905.4:p.Asn414=
ENST00000672866.1:n.2763C=
XM_011534043.1:c.1194C= XP_011532345.1:p.Asn398=
XM_011534043.2:c.1194C= XP_011532345.1:p.Asn398=
XM_011534044.1:c.1119C= XP_011532346.1:p.Asn373=
XM_011534045.1:c.1062C= XP_011532347.1:p.Asn354=
XM_011534045.3:c.1062C= XP_011532347.1:p.Asn354=
XM_017007106.1:c.1062C= XP_016862595.1:p.Asn354=