Canonical Allele Identifier: CA351830484
Gene: TGFBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606900T>A , CM000665.2:g.30606900T>A GRCh38
NC_000003.11:g.30648392T>A , CM000665.1:g.30648392T>A GRCh37
NC_000003.10:g.30623396T>A NCBI36
NG_007490.1:g.5399T>A , LRG_779:g.5399T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.17T>A MANE Select ENSP00000295754.5:p.Leu6His
ENST00000295754.9:c.17T>A ENSP00000295754.5:p.Leu6His
ENST00000359013.4:c.17T>A ENSP00000351905.4:p.Leu6His
NM_001024847.2:c.17T>A , LRG_779t1:c.17T>A NP_001020018.1:p.Leu6His
NM_003242.5:c.17T>A NP_003233.4:p.Leu6His
XM_011534045.1:c.-12+307T>A XP_011532347.1:n.-12+307T>A
XM_011534045.3:c.-12+307T>A XP_011532347.1:n.-12+307T>A
NM_003242.6:c.17T>A MANE Select NP_003233.4:p.Leu6His