Canonical Allele Identifier: CA351808226
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1699352075

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672131G>C , CM000665.2:g.30672131G>C GRCh38
NC_000003.11:g.30713623G>C , CM000665.1:g.30713623G>C GRCh37
NC_000003.10:g.30688627G>C NCBI36
NG_007490.1:g.70630G>C , LRG_779:g.70630G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.948G>C MANE Select ENSP00000295754.5:p.Glu316Asp
ENST00000672866.1:n.2544G>C
ENST00000295754.9:c.948G>C ENSP00000295754.5:p.Glu316Asp
ENST00000359013.4:c.1023G>C ENSP00000351905.4:p.Glu341Asp
NM_001024847.2:c.1023G>C , LRG_779t1:c.1023G>C NP_001020018.1:p.Glu341Asp
NM_003242.5:c.948G>C NP_003233.4:p.Glu316Asp
XM_011534043.1:c.975G>C XP_011532345.1:p.Glu325Asp
XM_011534044.1:c.900G>C XP_011532346.1:p.Glu300Asp
XM_011534045.1:c.843G>C XP_011532347.1:p.Glu281Asp
XM_011534043.2:c.975G>C XP_011532345.1:p.Glu325Asp
XM_011534045.3:c.843G>C XP_011532347.1:p.Glu281Asp
XM_017007106.1:c.843G>C XP_016862595.1:p.Glu281Asp
NM_003242.6:c.948G>C MANE Select NP_003233.4:p.Glu316Asp