Canonical Allele Identifier: CA1354849918
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30620836C>T , CM000665.2:g.30620836C>T GRCh38
NC_000003.11:g.30662328C>T , CM000665.1:g.30662328C>T GRCh37
NC_000003.10:g.30637332C>T NCBI36
NG_007490.1:g.19335C>T , LRG_779:g.19335C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+13859C>T MANE Select ENSP00000295754.5:n.94+13859C>T
ENST00000673250.1:n.144-2363C>T
ENST00000295754.9:c.94+13859C>T ENSP00000295754.5:n.94+13859C>T
ENST00000359013.4:c.95-2363C>T ENSP00000351905.4:n.95-2363C>T
NM_001024847.2:c.95-2363C>T , LRG_779t1:c.95-2363C>T NP_001020018.1:n.95-2363C>T
NM_003242.5:c.94+13859C>T NP_003233.4:n.94+13859C>T
XM_011534043.1:c.47-2363C>T XP_011532345.1:n.47-2363C>T
XM_011534044.1:c.46+6130C>T XP_011532346.1:n.46+6130C>T
XM_011534045.1:c.-12+14243C>T XP_011532347.1:n.-12+14243C>T
XM_011534043.2:c.47-2363C>T XP_011532345.1:n.47-2363C>T
XM_011534045.3:c.-12+14243C>T XP_011532347.1:n.-12+14243C>T
NM_003242.6:c.94+13859C>T MANE Select NP_003233.4:n.94+13859C>T