Canonical Allele Identifier: CA10588355
Community Standard Title: NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674186G>A , CM000665.2:g.30674186G>A GRCh38
NC_000003.11:g.30715678G>A , CM000665.1:g.30715678G>A GRCh37
NC_000003.10:g.30690682G>A NCBI36
NG_007490.1:g.72685G>A , LRG_779:g.72685G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.1336G>A MANE Select NP_003233.4:p.Asp446Asn
ENST00000295754.10:c.1336G>A MANE Select ENSP00000295754.5:p.Asp446Asn
NM_001024847.2:c.1411G>A , LRG_779t1:c.1411G>A NP_001020018.1:p.Asp471Asn
NM_003242.5:c.1336G>A NP_003233.4:p.Asp446Asn
ENST00000295754.9:c.1336G>A ENSP00000295754.5:p.Asp446Asn
ENST00000359013.4:c.1411G>A ENSP00000351905.4:p.Asp471Asn
ENST00000672866.1:n.2932G>A
ENST00000673203.1:n.214G>A
XM_011534043.1:c.1363G>A XP_011532345.1:p.Asp455Asn
XM_011534043.2:c.1363G>A XP_011532345.1:p.Asp455Asn
XM_011534044.1:c.1288G>A XP_011532346.1:p.Asp430Asn
XM_011534045.1:c.1231G>A XP_011532347.1:p.Asp411Asn
XM_011534045.3:c.1231G>A XP_011532347.1:p.Asp411Asn
XM_017007106.1:c.1231G>A XP_016862595.1:p.Asp411Asn