Canonical Allele Identifier: CA351806358
Community Standard Title: NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30644777A>G , CM000665.2:g.30644777A>G GRCh38
NC_000003.11:g.30686269A>G , CM000665.1:g.30686269A>G GRCh37
NC_000003.10:g.30661273A>G NCBI36
NG_007490.1:g.43276A>G , LRG_779:g.43276A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.125A>G MANE Select NP_003233.4:p.Asn42Ser
ENST00000295754.10:c.125A>G MANE Select ENSP00000295754.5:p.Asn42Ser
NM_001024847.2:c.200A>G , LRG_779t1:c.200A>G NP_001020018.1:p.Asn67Ser
NM_003242.5:c.125A>G NP_003233.4:p.Asn42Ser
ENST00000295754.9:c.125A>G ENSP00000295754.5:p.Asn42Ser
ENST00000359013.4:c.200A>G ENSP00000351905.4:p.Asn67Ser
ENST00000672866.1:n.1721A>G
ENST00000673250.1:n.249A>G
XM_011534043.1:c.152A>G XP_011532345.1:p.Asn51Ser
XM_011534043.2:c.152A>G XP_011532345.1:p.Asn51Ser
XM_011534044.1:c.77A>G XP_011532346.1:p.Asn26Ser
XM_011534045.1:c.20A>G XP_011532347.1:p.Asn7Ser
XM_011534045.3:c.20A>G XP_011532347.1:p.Asn7Ser
XM_017007106.1:c.20A>G XP_016862595.1:p.Asn7Ser