Canonical Allele Identifier: CA050066
Community Standard Title: NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672076A>G , CM000665.2:g.30672076A>G GRCh38
NC_000003.11:g.30713568A>G , CM000665.1:g.30713568A>G GRCh37
NC_000003.10:g.30688572A>G NCBI36
NG_007490.1:g.70575A>G , LRG_779:g.70575A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.893A>G MANE Select NP_003233.4:p.Asn298Ser
ENST00000295754.10:c.893A>G MANE Select ENSP00000295754.5:p.Asn298Ser
NM_001024847.2:c.968A>G , LRG_779t1:c.968A>G NP_001020018.1:p.Asn323Ser
NM_003242.5:c.893A>G NP_003233.4:p.Asn298Ser
ENST00000295754.9:c.893A>G ENSP00000295754.5:p.Asn298Ser
ENST00000359013.4:c.968A>G ENSP00000351905.4:p.Asn323Ser
ENST00000672866.1:n.2489A>G
XM_011534043.1:c.920A>G XP_011532345.1:p.Asn307Ser
XM_011534043.2:c.920A>G XP_011532345.1:p.Asn307Ser
XM_011534044.1:c.845A>G XP_011532346.1:p.Asn282Ser
XM_011534045.1:c.788A>G XP_011532347.1:p.Asn263Ser
XM_011534045.3:c.788A>G XP_011532347.1:p.Asn263Ser
XM_017007106.1:c.788A>G XP_016862595.1:p.Asn263Ser