Canonical Allele Identifier: CA351808153
Community Standard Title: NM_003242.6(TGFBR2):c.912A>G (p.Ile304Met)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672095A>G , CM000665.2:g.30672095A>G GRCh38
NC_000003.11:g.30713587A>G , CM000665.1:g.30713587A>G GRCh37
NC_000003.10:g.30688591A>G NCBI36
NG_007490.1:g.70594A>G , LRG_779:g.70594A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.912A>G MANE Select NP_003233.4:p.Ile304Met
ENST00000295754.10:c.912A>G MANE Select ENSP00000295754.5:p.Ile304Met
NM_001024847.2:c.987A>G , LRG_779t1:c.987A>G NP_001020018.1:p.Ile329Met
NM_003242.5:c.912A>G NP_003233.4:p.Ile304Met
ENST00000295754.9:c.912A>G ENSP00000295754.5:p.Ile304Met
ENST00000359013.4:c.987A>G ENSP00000351905.4:p.Ile329Met
ENST00000672866.1:n.2508A>G
XM_011534043.1:c.939A>G XP_011532345.1:p.Ile313Met
XM_011534043.2:c.939A>G XP_011532345.1:p.Ile313Met
XM_011534044.1:c.864A>G XP_011532346.1:p.Ile288Met
XM_011534045.1:c.807A>G XP_011532347.1:p.Ile269Met
XM_011534045.3:c.807A>G XP_011532347.1:p.Ile269Met
XM_017007106.1:c.807A>G XP_016862595.1:p.Ile269Met